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검색어
[키워드: "Introne, Wendy"]
총
243
건
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원문(Full Text)
Peer-Reviewed 학술지
발행년
-
재검색
자료유형
Academic Journals
(225)
Magazines
(15)
Books
(1)
자료유형
Count
Name
Academic Journals
(
225
)
Magazines
(
15
)
Books
(
1
)
Reports
(
1
)
eBooks
(
1
)
닫기
주제
chediak-higashi syndrome
(41)
alkaptonuria
(22)
smith-magenis syndrome
(14)
주제
Count
Name
chediak-higashi syndrome
(
41
)
alkaptonuria
(
22
)
smith-magenis syndrome
(
14
)
hermansky-pudlak syndrome
(
11
)
lysosomes
(
11
)
mutations
(
11
)
homogentisic acid
(
10
)
phenotype
(
10
)
children
(
9
)
genetic disorders
(
9
)
genotype
(
9
)
identification
(
9
)
oculocutaneous albinism
(
9
)
lyst
(
8
)
mutation
(
8
)
ochronosis
(
8
)
phenotypes
(
8
)
exocytosis
(
7
)
gene
(
6
)
intellectual disability
(
6
)
adolescents
(
5
)
albinos & albinism
(
5
)
hyperacusis
(
5
)
hypopigmentation
(
5
)
peripheral neuropathy
(
5
)
research funding
(
5
)
sleep
(
5
)
spectrum
(
5
)
action potentials
(
4
)
adults
(
4
)
bone marrow transplant
(
4
)
bone marrow transplantation
(
4
)
bruising
(
4
)
chinese
(
4
)
cytotoxic t cells
(
4
)
cytotoxicity
(
4
)
disease
(
4
)
genetic mutation
(
4
)
hearing disorders
(
4
)
hermanski-pudlak syndrome
(
4
)
immune deficiency
(
4
)
immunodeficiency
(
4
)
ipsc
(
4
)
management
(
4
)
melatonin
(
4
)
metabolic disorders
(
4
)
natural killer cell
(
4
)
neural conduction
(
4
)
neurodegeneration
(
4
)
neurodegenerative diseases
(
4
)
닫기
Lexile Range
1301-1500+
(7)
1101-1300
(4)
간행물
orphanet journal of rare diseases
(22)
molecular genetics and metabolism
(18)
american journal of medical genetics part a
(11)
간행물
Count
Name
orphanet journal of rare diseases
(
22
)
molecular genetics and metabolism
(
18
)
american journal of medical genetics part a
(
11
)
genetics in medicine
(
11
)
neurology
(
11
)
molecular genetics & metabolism
(
8
)
platelets
(
8
)
muscle & nerve
(
6
)
american journal of medical genetics. part a
(
5
)
current opinion in hematology
(
5
)
human genetics
(
5
)
laryngoscope
(
5
)
movement disorders
(
5
)
the american journal of human genetics
(
5
)
cellular & molecular life sciences
(
4
)
cellular and molecular life sciences
(
4
)
human mutation
(
4
)
jama network open
(
4
)
journal of allergy and clinical immunology
(
4
)
journal of speech, language & hearing research
(
4
)
neural regeneration research
(
4
)
new england journal of medicine
(
4
)
npj genomic medicine
(
4
)
pediatrics
(
4
)
plos one
(
4
)
pm & r: journal of injury, function & rehabilitation
(
4
)
stem cell research
(
4
)
american journal of human genetics
(
3
)
archives of physical medicine & rehabilitation
(
3
)
archives of physical medicine and rehabilitation
(
3
)
blood
(
3
)
frontiers in genetics
(
3
)
frontiers in immunology
(
3
)
journal of medical genetics
(
3
)
the new england journal of medicine
(
3
)
cellular and molecular life sciences cmls
(
2
)
clinical journal of the american society of nephrology
(
2
)
drug discovery today: disease models
(
2
)
genetics in medicine open
(
2
)
jci insight
(
2
)
jimd reports, volume 30
(
2
)
journal of allergy & clinical immunology
(
2
)
journal of speech language and hearing research
(
2
)
nature reviews disease primers
(
2
)
neurology (ovid)
(
2
)
ophthalmology science
(
2
)
the journal of allergy and clinical immunology
(
2
)
the lancet diabetes & endocrinology
(
2
)
journal of speech, language, and hearing research
(
1
)
pm&r
(
1
)
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출판사
wiley-blackwell
(26)
elsevier inc.
(21)
biomed central
(18)
출판사
Count
Name
wiley-blackwell
(
26
)
elsevier inc.
(
21
)
biomed central
(
18
)
lippincott williams & wilkins
(
13
)
academic press inc elsevier science
(
9
)
academic press inc.
(
8
)
elsevier b.v.
(
8
)
springer nature
(
7
)
wiley
(
7
)
academic press
(
6
)
american speech-language-hearing association
(
5
)
taylor & francis ltd
(
4
)
wiley-liss
(
4
)
amer acad pediatrics
(
3
)
american medical association
(
3
)
bmc
(
3
)
cell press
(
3
)
elsevier
(
3
)
informa healthcare
(
3
)
public library of science
(
3
)
springer
(
3
)
amer speech-language-hearing assoc
(
2
)
biomed central ltd
(
2
)
bmj publishing group
(
2
)
frontiers media s.a.
(
2
)
frontiers media sa
(
2
)
massachusetts medical society
(
2
)
mosby
(
2
)
mosby-elsevier
(
2
)
nature portfolio
(
2
)
springer basel ag
(
2
)
springer berlin heidelberg
(
2
)
springer international publishing
(
2
)
wolters kluwer india pvt ltd
(
2
)
american academy of pediatrics
(
1
)
american society for clinical investigation
(
1
)
british medical association
(
1
)
elsevier, b.v
(
1
)
escholarship, university of california
(
1
)
frontiers research foundation
(
1
)
frontiers research foundation]
(
1
)
john wiley & sons
(
1
)
lippincott williams and wilkins
(
1
)
nature publishing group
(
1
)
nature publishing group uk
(
1
)
springer nature in partnership with the center of excellence in genomic medicine research at king abdulaziz university
(
1
)
springer verlag
(
1
)
the lancet, diabetes & endocrinology
(
1
)
university of washington, seattle
(
1
)
wolters kluwer health
(
1
)
닫기
언어
english
(226)
Publication Year
2023
(4)
2013
(3)
2017
(3)
Publication Year
Count
Name
2023
(
4
)
2013
(
3
)
2017
(
3
)
2019
(
3
)
2002
(
2
)
2011
(
2
)
2020
(
2
)
2010
(
1
)
2012
(
1
)
2014
(
1
)
2018
(
1
)
닫기
수록데이터베이스
Science Citation Index Expanded
(52)
MEDLINE
(51)
Complementary Index
(31)
수록데이터베이스
Count
Name
Science Citation Index Expanded
(
52
)
MEDLINE
(
51
)
Complementary Index
(
31
)
Supplemental Index
(
27
)
ScienceDirect
(
24
)
Academic Search Complete
(
23
)
CINAHL Plus with Full Text
(
13
)
Journals@OVID
(
9
)
Springer Nature Journals
(
6
)
Social Sciences Citation Index
(
3
)
Education Source
(
1
)
ERIC
(
1
)
eScholarship
(
1
)
Springer Nature eBooks
(
1
)
닫기
PQDT
CAJ
RISS
PsycINFO
전체선택
날짜 내림차순
날짜 오름차순
연관도
10
20
30
50
1
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
학술저널
issue
npj Genomic Medicine
. 8(1)
Author
Morimoto, Marie
Bhambhani, Vikas
Gazzaz, Nour
Davids, Mariska
Sathiyaseelan, Paalini
Macnamara, Ellen F
Lange, Jennifer
Lehman, Anna
Zerfas, Patricia M
Murphy, Jennifer L
Acosta, Maria T
Wang, Camille
Alderman, Emily
Reichert, Sara
Thurm, Audrey
Adams, David R
Introne
,
Wendy
J
Gorski, Sharon M
Boerkoel, Cornelius F
Gahl, William A
Tifft, Cynthia J
Malicdan, May Christine V
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship)
2
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
학술저널
issue
In
Genetics in Medicine
June 2024 26(6)
Author
Acosta, Maria T.
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Allworth, Aimee
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Grajewski, Alana
Hadley, Don
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kaitryn, Emerald
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Might, Matthew
Miller, Danny
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind,
Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenthal, Elizabeth
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Seto, Elaine
Shashi, Vandana
Shelkowitz, Emily
Sheppeard, Sam
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stergachis, Andrew
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Pucel, Jenna
Reuter, Chloe
Gochyyev, Perman
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect O/A)
등재 - SCOPUS
조회 - Impact Factor (JCR)
3
De novo variants in DENND5B cause a neurodevelopmental disorder
학술저널
issue
In
The American Journal of Human Genetics
7 March 2024 111(3):529-543
Author
Acosta, Maria T.
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Allworth, Aimee
Andrews, Ashley
Ashley, Euan A.
Afzali, Ben
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, HsiaoTuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Delgado, Margaret
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fu, Jiayu
Gahl, William A.
Glass, Ian
Goddard, Page C.
Godfrey, Rena A.
Grajewski, Alana
Gropman, Andrea
Halley, Meghan C.
Hamid, Rizwan
Hanchard, Neal
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yan
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kaitryn, Emerald
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Might, Matthew
Miller, Danny
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Morimoto, Marie
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Papp, Jeanette C.
Parker, Neil H.
Petcharet, Leoyklang
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Swerdzewski, Barbara N. Pusey
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind,
Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenthal, Elizabeth
Rossignol, Francis
Ruzhnikov, Maura
Sabaii, Marla
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Seto, Elaine
Sharma, Prashant
Shashi, Vandana
Shelkowitz, Emily
Sheppeard, Sam
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stergachis, Andrew
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Taylor, Herman
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz Hubshman, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Yamamoto, Shinya
Zhang, Zhe
Zuchner, Stephan
Scala, Marcello
Tomati, Valeria
Ferla, Matteo
Lena, Mariateresa
Cohen, Julie S.
Fatemi, Ali
Brokamp, Elly
Koziura, Mary E.
Nicouleau, Michael
Rio, Marlene
Siquier, Karine
Boddaert, Nathalie
Musante, Ilaria
Tamburro, Serena
Baldassari, Simona
Iacomino, Michele
Scudieri, Paolo
Bellus, Gary
Reed, Sara
Al Saif, Hind
Russo, Rossana Sanchez
Walsh, Matthew B.
Cantagrel, Vincent
Crunk, Amy
Gustincich, Stefano
Ruggiero, Sarah M.
Fitzgerald, Mark P.
Helbig, Ingo
Striano, Pasquale
Severino, Mariasavina
Salpietro, Vincenzo
Pedemonte, Nicoletta
Zara, Federico
DB Label
Database : ScienceDirect
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등재 - Web of Science (SCIE)
등재 - SCOPUS
조회 - Impact Factor (JCR)
4
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
학술저널
issue
In
The American Journal of Human Genetics
4 January 2024 111(1):96-118
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, Audrey Stephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley F.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips III, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind,
Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Scott, C. Ron
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz Hubshman, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Paul, Maimuna S.
Michener, Sydney L.
Pan, Hongling
Chan, Hiuling
Pfliger, Jessica M.
Lerma, Vanesa C.
Tran, Alyssa
Longley, Megan A.
Weisz-Hubshman, Monika
Bekheirnia, Mir Reza
Bekheirnia, Nasim
Massingham, Lauren
Zech, Michael
Wagner, Matias
Engels, Hartmut
Cremer, Kirsten
Mangold, Elisabeth
Peters, Sophia
Trautmann, Jessica
Perne, Claudia
Mester, Jessica L.
Guillen Sacoto, Maria J.
Person, Richard
McDonnell, Pamela P.
Cohen, Stacey R.
Lusk, Laina
Cohen, Ana S.A.
Le Pichon, Jean-Baptiste
Pastinen, Tomi
Zhou, Dihong
Engleman, Kendra
Racine, Caroline
Faivre, Laurence
Moutton, Sébastien
Denommé-Pichon, Anne-Sophie
Koh, Hyun Yong
Poduri, Annapurna
Bolton, Jeffrey
Knopp, Cordula
Julia Suh, Dong Sun
Maier, Andrea
Toosi, Mehran Beiraghi
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Schaefer, Gerald Bradley
Ramakumaran, Vijayalakshmi
Vasudevan, Pradeep
Banos-Pinero, Benito
Pagnamenta, Alistair T.
Prasad, Chitra
Osmond, Matthew
Schuhmann, Sarah
Vasileiou, Georgia
Russ-Hall, Sophie
Scheffer, Ingrid E.
Carvill, Gemma L.
DB Label
Database : ScienceDirect
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등재 - Web of Science (SCIE)
등재 - SCOPUS
조회 - Impact Factor (JCR)
5
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
학술저널
issue
In
Genetics in Medicine
May 2024
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Sessions Cole, F.
Colley, Heather A.
Cope, Heidi
Corner, Brian
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell’Angelica, Esteban C.
Dickson, Patricia
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Ezell, Kimberly
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Lawrence Merritt, J.
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley F.
Neumann, Serena
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Carl Pallais, J.
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind,
Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Ron Scott, C.
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Legro, Nicole R.
Bowman, Angela
Ugur, Berrak
Jackstadt, Madelyn M.
Shriver, Leah P.
Patti, Gary J.
Zhang, Bo
Feng, Wenjia
McAdow, Anthony R.
Goddard, Pagé
Jensen, Tanner
Fresard, Laure
Alvarez, Raquel
McCormack, Colleen
Holt, James M.
Worthey, Elizabeth
Montgomery, Stephen B.
Fisher, Paul
Postlethwait, John
De Camilli, Pietro
Solnica-Krezel, Lila
DB Label
Database : ScienceDirect
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등재 - Web of Science (SCIE)
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6
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
학술저널
issue
In
The Journal of Pediatrics
October 2023 261
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Sessions Cole, F.
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dickson, Patricia
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
Newman, John H.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Carl Pallais, J.
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind,
Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Scott, C. Ron
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Halley, Meghan C.
Young, Jennifer L.
Tang, Charis
Mintz, Kevin T.
Lucas-Griffin, Sawyer
Maghiro, AudreyStephannie
Ashley, Euan A.
Tabor, Holly K.
DB Label
Database : ScienceDirect
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Full Text (Clinical Key)
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7
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
학술저널
issue
In
Genetics in Medicine
September 2023 25(9)
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dickson, Patricia
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, Audrey Stephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley F.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind,
Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Scott, C. Ron
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Ganetzky, Rebecca
Kranz, Peter G.
Sondheimer, Neal
Markert, M. Louise
Sadeghpour, Azita
Roehrs, Philip
Arbogast, Thomas
Muraresku, Colleen
Tyndall, Amanda V.
Esser, Michael J.
Woodward, Kristine E.
Ping-Yee Au, Billie
Parboosingh, Jillian S.
Lamont, Ryan E.
Bernier, Francois P.
Wright, Nicola A.M.
Benseler, Susa M.
Parsons, Simon J.
El-Dairi, Mays
Valdez, Purnima
Tennison, Michael
Innes, A. Micheil
Davis, Erica E.
DB Label
Database : ScienceDirect
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등재 - Web of Science (SCIE)
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8
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
학술저널
issue
In
The American Journal of Human Genetics
3 August 2023 110(8):1414-1435
Author
Ambrose, J.C.
Arumugam, P.
Bevers, R.
Bleda, M.
Boardman-Pretty, F.
Boustred, C.R.
Brittain, H.
Brown, M.A.
Caulfield, M.J.
Chan, G.C.
Giess, A.
Griffin, J.N.
Hamblin, A.
Henderson, S.
Hubbard, T.J.P.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Kousathanas, A.
Lahnstein, L.
Lakey, A.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
Maleady-Crowe, F.
McEntagart, M.
Minneci, F.
Mitchell, J.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
O‘Donovan, P.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Pereira, M.B.
Pullinger, J.
Rahim, T.
Rendon, A.
Rogers, T.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smith, S.C.
Sosinsky, A.
Stuckey, A.
Tanguy, M.
Taylor Tavares, A.L.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Welland, M.J.
Williams, E.
Witkowska, K.
Wood, S.M.
Zarowiecki, M.
Acosta, Maria T.
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Allworth, Aimee
Andrews, Ashley
Ashley, Euan A.
Afzali, Ben
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennet, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Delgado, Margaret
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fu, Jiayu
Gahl, William A.
Glass, Ian
Goddard, Page C.
Godfrey, Rena A.
Grajewski, Alana
Halley, Meghan C.
Hamid, Rizwan
Hanchard, Neal
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yan
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kaitryn, Emerald
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Might, Matthew
Miller, Danny
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Morimoto, Marie
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Papp, Jeanette C.
Parker, Neil H.
Petcharet, Leoyklang
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind,
Wendy
Renteria, Genecee
Reuter, Chloe
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenthal, Elizabeth
Rossignol, Francis
Ruzhnikov, Maura
Sabaii, Marla
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Seto, Elaine
Sharma, Prashant
Shashi, Vandana
Shelkowitz, Emily
Sheppeard, Sam
Shin, Jimann
Silverman, Edwin
Sinsheimer, Janet
Sisco, Kathy
Smith, Edward
Smith, Kevin
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca
Stergachis, Andrew
Stoler, Joan
Sullivan, Kathleen
Sullivan, Jennifer
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Yamamoto, Shinya
Zhang, Zhe
Zuchner, Stephan
Niggl, Eva
Bouman, Arjan
Hoogenboezem, Remco M.
Wallaard, Ilse
Park, Joohyun
Admard, Jakob
Wilke, Martina
Harris-Mostert, Emilio D.R.O.
Elgersma, Minetta
Bain, Jennifer
Balasubramanian, Meena
Banka, Siddharth
Benke, Paul J.
Bertrand, Miriam
Blesson, Alyssa E.
Clayton-Smith, Jill
Ellingford, Jamie M.
Gillentine, Madelyn A.
Goodloe, Dana H.
Haack, Tobias B.
Jain, Mahim
Krantz, Ian
Luu, Sharon M.
McPheron, Molly
Muss, Candace L.
Raible, Sarah E.
Robin, Nathaniel H.
Spiller, Michael
Starling, Susan
Thiffault, Isabelle
Vetrini, Francesco
Witt, Dennis
Woods, Emily
Zhou, Dihong
Elgersma, Ype
van Esbroeck, Annelot C.M.
DB Label
Database : ScienceDirect
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Full Text (ScienceDirect O/A)
등재 - Web of Science (SCIE)
등재 - SCOPUS
조회 - Impact Factor (JCR)
9
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
학술저널
issue
In
The American Journal of Human Genetics
3 August 2023 110(8):1377-1393
Author
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne
,
Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
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McGee, Elisabeth
Mefford, Heather
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Might, Matthew
Mirzaa, Ghayda
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Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
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Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips III, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
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Raper, Anna
Raskind,
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Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
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Rosenfeld, Jill A.
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Scott, Daryl A.
Scott, C. Ron
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Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz Hubshman, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Nigro, Vincenzo
Torella, Annalaura
Morleo, Manuela
Spampanato, Carmine
Pinelli, Michele
Banfi, Sandro
Varavallo, Alessandra
Selicorni, Angelo
Mariani, Milena
Massimello, Marta
Daolio, Cecilia
Capra, Valeria
Accogli, Andrea
Scala, Marcello
Leuzzi, Vincenzo
Nardecchia, Francesca
Galosi, Serena
Mastrangelo, Mario
Milani, Donatella
Vitiello, Giuseppina
Piluso, Giulio
Romano, Corrado
Failla, Pinella
Greco, Donatella
Pantaleoni, Chiara
Ciaccio, Claudia
D’Arrigo, Stefano
Brunetti Pierri, Nicola
Parenti, Giancarlo
Coppola, Antonietta
Mattina, Teresa
Zollino, Marcella
Amenta, Simona
Tummolo, Albina
Santoro, Claudia
Grandone, Anna
De Brasi, Daniele
Varone, Antonio
Garavelli, Livia
Marini, Carla
Bigoni, Stefania
Piscopo, Carmelo
Trabacca, Antonio
De Rinaldis, Marta
Peron, Angela
Venditti, Rossella
Theodorou, Evangelos
Rosello, Marion
Tirozzi, Alfonsina
Tammaro, Roberta
Al-Badri, Nour
High, Frances A.
Shi, Jiahai
Putti, Elena
Ferrante, Luigi
Cetrangolo, Viviana
Walker, Melissa A.
Tenconi, Romano
Iascone, Maria
Mei, Davide
Guerrini, Renzo
van der Smagt, Jasper
Kroes, Hester Y.
van Gassen, Koen L.I.
Bilal, Muhammad
Umair, Muhammad
Pingault, Veronica
Attie-Bitach, Tania
Amiel, Jeannine
Ejaz, Resham
Rodan, Lance
Agrawal, Pankaj B.
Del Bene, Filippo
Franco, Brunella
DB Label
Database : ScienceDirect
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Full Text (ScienceDirect O/A)
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10
Chediak-Higashi syndrome
학술저널
issue
Current Opinion in Hematology
. Jul 01, 2023 30(4):144-151
Author
Talbert, Mackenzie L.
Malicdan, May Christine V.
Introne
,
Wendy
J.
DB Label
Database : Journals@OVID
원문보기
Full Text (LWW - Ovid)
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한국과학기술연구원(KIST)
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한국표준과학연구원(KRISS)
한국항공우주연구원(KARI)
한국해양연구원(KORDI)
한국화학연구원(KRICT)
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환경지질연구정보센터(연세대학교)