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(4)
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rare diseases
(
4
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(
4
)
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(
3
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diagnosis
(
3
)
discovery
(
3
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1
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(
3
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1
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
학술저널
issue
Molecular Genetics & Genomic Medicine
. 7(6)
Author
Newman, John H
Shaver, Aaron
Sheehan, Jonathan H
Mallal, Simon
Stone, John H
Pillai, Shiv
Bastarache, Lisa
Riebau, Derek
Allard‐Chamard, Hugues
Stone, William
M
Perugino, Cory
Pilkinton, Mark
Smith, Scott A
McDonnell, Wyatt J
Capra, John A
Meiler, Jens
Cogan, Joy
Xing, Kelly
Mahajan, Vinay S
Mattoo, Hamid
Hamid, Rizwan
Phillips, John A
Adams, David R
Aday, Aaron
Alejandro, Mercedes E
Allard, Patrick
Ashley, Euan A
Azamian, Mahshid S
Bacino, Carlos A
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F
Beggs, Alan H
Behnam, Babak
Bellen, Hugo J
Bernstein, Jonathan A
Bican, Anna
Bick, David P
Birch, Camille L
Bonner, Devon
Boone, Braden E
Bostwick, Bret L
Briere, Lauren C
Brown, Donna
M
Brush, Matthew
Burke, Elizabeth A
Burrage, Lindsay C
Butte, Manish J
Chen, Shan
Clark, Gary D
Coakley, Terra R
Cooper, Cynthia
M
Cope, Heidi
Craigen, William J
D'Souza, Precilla
Davids, Mariska
Davidson, Jean
M
Dayal, Jyoti G
Dell'Angelica, Esteban C
Dhar, Shweta U
Dipple, Katrina
M
Donnell‐Fink, Laurel A
Dorrani, Naghmeh
Dorset, Daniel C
Douine, Emilie D
Draper, David D
Dries, Annika
M
Eckstein, David J
Emrick, Lisa T
Eng, Christine
M
Enns, Gregory
M
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fisher, Paul G
Fogel, Brent L
Friedman, Noah D
Gahl, William A
Glanton, Emily
Godfrey, Rena A
Goldman, Alica
M
Goldstein, David B
Gould, Sarah E
Gourdine, Jean‐Philippe F
Groden, Catherine A
Gropman, Andrea L
Haendel, Melissa
Hanchard, Neil A
Handley, Lori H
Herzog, Matthew R
High, Francis
Holm, Ingrid A
Hom, Jason
Howerton
,
Ellen
M
Huang, Yong
Jamal, Fariha
Jiang, Yong‐hui
Johnston, Jean
M
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship)
2
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
학술저널
issue
Neurology: Genetics
. Aug 01, 2018 4(4)
Author
Machol, Keren
Jankovic, Joseph
Vijayakumar, Dhanya
Burrage, Lindsay C.
Jain, Mahim
Lewis, Richard A.
Fuller, Gregory N.
Xu, Mingchu
Penas-Prado, Marta
Gule-Monroe, Maria K.
Rosenfeld, Jill A.
Chen, Rui
Eng, Christine
M
.
Yang, Yaping
Lee, Brendan H.
Moretti, Paolo
M
.
Dhar, Shweta U.
Alejandro, Mercedes E.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Bostwick, Bret L.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Craigen, William J.
Dhar, Shweta U.
Emrick, Lisa T.
Goldman, Alica
M
.
Hanchard, Neil A.
Jamal, Fariha
Karaviti, Lefkothea
Lalani, Seema R.
Lee, Brendan H.
Lewis, Richard A.
Marom, Ronit
Moretti, Paolo
M
.
Murdock, David R.
Nicholas, Sarah K.
Orange, Jordan S.
Orengo, James P.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Bellen, Hugo J.
Wangler, Michael F.
Yamamoto, Shinya
Eng, Christine
M
.
Muzny, Donna
M
.
Ward, Patricia A.
Yang, Yaping
Goldstein, David B.
Stong, Nicholas
Cope, Heidi
Jiang, Yong-hui
McConkie-Rosell, Allyn
Pena, Loren DM.
Schoch, Kelly
Shashi, Vandana
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Tan, Queenie K.G.
Walley, Nicole
M
.
Aaron, Aday
Beggs, Alan H.
Briere, Lauren C.
Cooper, Cynthia
M
.
Donnell-Fink, Laurel A.
High, Francis
Korrick, Susan
Krieg, Elizabeth L.
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan
M
.
Sweetser, David A.
Walker, Melissa
Walsh, Chris A.
Esteves, Cecilia
Glanton, Emily
Holm, Ingrid A.
Kohane, Isaac S.
McCray, Alexa T.
Might, Matthew
LeBlanc, Kimberly
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Brown, Donna
M
.
Dorset, Daniel C.
Handley, Lori H.
Jones, Angela L.
Lazar, Jozef
Levy, Shawn E.
May, Thomas
Newberry, J. Scott
Schroeder, Molly C.
Worthey, Elizabeth A.
Batzli, Gabriel F.
Dayal, Jyoti G.
Eckstein, David J.
Gould, Sarah E.
Howerton
,
Ellen
M
.
Krasnewich, Donna
M
.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
Urv, Tiina K.
Wise, Anastasia L.
Brush, Matthew
Gourdine, Jean-Philippe F.
Haendel, Melissa
Koeller, David
M
.
Kyle, Jennifer E.
Metz, Thomas O.
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Ashley, Euan A.
Bernstein, Jonathan A.
Bonner, Devon
Coakley, Terra R.
Davidson, Jean
M
.
Dries, Annika
M
.
Enns, Gregory
M
.
Fernandez, Liliana
Fisher, Paul G.
Friedman, Noah D.
Hom, Jason
Huang, Yong
Kohler, Jennefer N.
Majcherska, Marta
M
.
Marwaha, Shruti
McCormack, Colleen E.
Merker, Jason D.
Reuter, Chloe
M
.
Sampson, Jacinda B.
Smith, Kevin S.
Waggott, Daryl
M
.
Wheeler, Matthew T.
Zastrow, Diane B.
Zhao, Chunli
Allard, Patrick
Barseghyan, Hayk
Butte, Manish J.
DellʼAngelica, Esteban C.
Dipple, Katrina
M
.
Dorrani, Naghmeh
Douine, Emilie D.
Eskin, Ascia
Fogel, Brent L.
Herzog, Matthew R.
Lee, Hane
Loo, Sandra K.
Martin, Martin G.
Martínez-Agosto, Julian A.
Nelson, Stan F.
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Sinsheimer, Janet S.
Vilain, Eric
Wan, Jijun
Yoon, Amanda J.
Zheng, Allison
Behnam, Babak
Burke, Elizabeth A.
DʼSouza, Precilla
Davids, Mariska
Draper, David D.
Estwick, Tyra
Ferreira, Carlos
Godfrey, Rena A.
Groden, Catherine A.
Johnston, Jean
M
.
Lau, C. Christopher
Macnamara,
Ellen
F.
Maduro, Valerie V.
Markello, Thomas C.
Morimoto, Marie
Murphy, Jennifer L.
Nehrebecky, Michele E.
Novacic, Donna
Pusey, Barbara N.
Sharma, Prashant
Toro, Camilo
Valivullah, Zaheer
M
.
Wahl, Colleen E.
Yu, Guoyun
Gropman, Andrea L.
Adams, David R.
Gahl, William A.
Malicdan, May Christine V.
Tifft, Cynthia J.
Wolfe, Lynne A.
Postlethwait, John H.
Westerfield, Monte
Bican, Anna
Hamid, Rizwan
Newman, John H.
Phillips, John A.
, III
Robertson, Amy K.
Cogan, Joy D.
DB Label
Database : Journals@OVID
원문보기
Full Text (LWW - Ovid)
등재 - SCOPUS
조회 - Impact Factor (JCR)
등재 - Web of Science (SCIE)
3
Maternal Psychiatric Conditions, Treatment With Selective Serotonin Reuptake Inhibitors, and Neurodevelopmental Disorders
학술저널
issue
BIOLOGICAL PSYCHIATRY
; AUG 15 2021, 90 4, p253-p262, 10p.
Author
Ames, Jennifer L.
Ladd-Acosta, Christine
Fallin,
M
. Daniele
Qian, Yinge
Schieve, Laura A.
DiGuiseppi, Carolyn
Lee, Li-Ching
Kasten, Eric P.
Zhou, Guoli
Pinto-Martin, Jennifer
Howerton
,
Ellen
M
.
Eaton, Christopher L.
Croen, Lisa A.
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (ScienceDirect)
Full Text (Clinical Key)
등재 - SCOPUS
조회 - Impact Factor (JCR)
등재 - Web of Science
4
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
학술저널
issue
SCIENTIFIC DATA
; APR 21 2021, 8 1, p114 12p.
Author
Kyle, Jennifer E.
Stratton, Kelly G.
Zink, Erika
M
.
Kim, Young-Mo
Bloodsworth, Kent J.
Monroe, Matthew E.
Bacino, Carlos A.
Hanchard, Neil A.
Lewis, Richard A.
Rosenfeld, Jill A.
Scott, Daryl A.
Tran, Alyssa A.
Ward, Patricia A.
Burrage, Lindsay C.
Clark, Gary D.
Alejandro, Mercedes E.
Posey, Jennifer E.
Wangler, Michael F.
Lee, Brendan H.
Craigen, William J.
Bellen, Hugo J.
Nicholas, Sarah K.
Bostwick, Bret L.
Samson, Susan L.
Goldman, Alica
M
.
Moretti, Paolo
M
.
Eng, Christine
M
.
Muzny, Donna
M
.
Orengo, James P.
Vogel, Tiphanie P.
Lalani, Seema R.
Murdock, David R.
Azamian, Mahshid S.
Orange, Jordan S.
Emrick, Lisa T.
Dhar, Shweta U.
Balasubramanyam, Ashok
Potocki, Lorraine
Yamamoto, Shinya
Yang, Yaping
Chen, Shan
Jamal, Fariha
Karaviti, Lefkothea
Marom, Ronit
Lincoln, Sharyn A.
Walsh, Chris A.
Beggs, Alan H.
Rodan, Lance H.
Stoler, Joan
M
.
Berry, Gerard T.
Cobban, Laurel A.
MacRae, Calum A.
Krier, Joel B.
Silverman, Edwin K.
Fieg, Elizabeth L.
Maas, Richard L.
Loscalzo, Joseph
Aday, Aaron
Korrick, Susan
Goldstein, David B.
Stong, Nicholas
Sullivan, Jennifer A.
Spillmann, Rebecca C.
Pena, Loren D.
M
.
Tan, Queenie K. -G.
Walley, Nicole
M
.
Jiang, Yong-hui
McConkie-Rosell, Allyn
Schoch, Kelly
Shashi, Vandana
Cope, Heidi
Holm, Ingrid A.
Kohane, Isaac S.
McCray, Alexa T.
Esteves, Cecilia
LeBlanc, Kimberly
Might, Matthew
Kelley, Emily
Worthey, Elizabeth A.
Dorset, Daniel C.
Boone, Braden E.
Levy, Shawn E.
Birch, Camille L.
Jones, Angela L.
Brown, Donna
M
.
Bick, David P.
Newberry, J. Scott
Lazar, Jozef
May, Thomas
Sweetser, David A.
Briere, Lauren C.
Pallais, J. Carl
Cooper, Cynthia
M
.
High, Frances
Walker, Melissa
Colley, Heather A.
Mamounas, Laura A.
Manolio, Teri A.
Burke, Elizabeth A.
Godfrey, Rena A.
Groden, Catherine A.
Gahl, William A.
Wolfe, Lynne A.
Markello, Thomas C.
Lau, C. Christopher
Draper, David D.
Gould, Sarah E.
Nehrebecky, Michele E.
Wahl, Colleen E.
Batzli, Gabriel F.
Macnamara,
Ellen
F.
Dayal, Jyoti G.
Eckstein, David J.
Mulvihill, John J.
Tifft, Cynthia J.
Urv, Tiina K.
Wise, Anastasia L.
Murphy, Jennifer L.
Gropman, Andrea L.
Howerton
,
Ellen
M
.
Krasnewich, Donna
M
.
Johnston, Jean
M
.
Pusey, Barbara N.
Adams, David R.
Maduro, Valerie V.
Malicdan, May Christine V.
Davids, Mariska
Estwick, Tyra
Novacic, Donna
Sharma, Prashant
Toro, Camilo
Yu, Guoyun
Behnam, Babak
D'Souza, Precilla
Ferreira, Carlos
Morimoto, Marie
Baker, Eva H.
Yang, John
Gourdine, Jean-Philippe F.
Brush, Matthew
Haendel, Melissa
Ashley, Euan A.
Bernstein, Jonathan A.
Sampson, Jacinda B.
Zastrow, Diane B.
Friedman, Noah D.
Merker, Jason D.
McCormack, Colleen E.
Fisher, Paul G.
Davidson, Jean
M
.
Dries, Annika
M
.
Enns, Gregory
M
.
Majcherska, Marta
M
.
Reuter, Chloe
M
.
Waggott, Daryl
M
.
Kohler, Jennefer N.
Coakley, Terra R.
Smith, Kevin S.
Wheeler, Matthew T.
Bonner, Devon
Fernandez, Liliana
Hom, Jason
Huang, Yong
Marwaha, Shruti
Zhao, Chunli
Martinez-Agosto, Julian A.
Dell'Angelica, Esteban C.
Papp, Jeanette C.
Douine, Emilie D.
Nelson, Stan F.
Martin, Martin G.
Palmer, Christina GS.
Parker, Neil H.
Butte, Manish J.
Yoon, Amanda J.
Loo, Sandra K.
Fogel, Brent L.
Dipple, Katrina
M
.
Sinsheimer, Janet S.
Allard, Patrick
Barseghyan, Hayk
Dorrani, Naghmeh
Lee, Hane
Vilain, Eric
Eskin, Ascia
Renteria, Genecee
Signer, Rebecca
Wan, Jijun
Zheng, Allison
Westerfield, Monte
Phillips, John A., III
Cogan, Joy D.
Newman, John H.
Robertson, Amy K.
Hamid, Rizwan
Bican, Anna
Brokamp, Elly
Duncan, Laura
Kozuira, Mary
Rives, Lynette
Shakachite, Lisa
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Koeller, David
M
.
Metz, Thomas O.
Undiagnosed Dis Network
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OA (Nature)
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5
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
학술저널
issue
MOLECULAR GENETICS & GENOMIC MEDICINE
; JUN 2019, 7 6, pUNSP e676 7p.
Author
Cassini, Thomas A.
Duncan, Laura
Rives, Lynette C.
Newman, John H.
Phillips, John A.
Koziura, Mary E.
Brault, Jennifer
Hamid, Rizwan
Cogan, Joy
Adams, Christopher J.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mashid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna
M
.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Chao, Katherine R.
Chen, Shan
Clark, Gary D.
Cooper, Cynthia
M
.
Craigen, William J.
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
M
.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Draper, David D.
Dries, Annika
M
.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine
M
.
Esteves, Cecilia
Estwick, Tyra
Fisher, Paul G.
Frisby, Trevor S.
Frost, Kate
Gahl, William A.
Gartner, Valerie
Godfrey, Rena A.
Goheen, Mitchell
Golas, Gretchen A.
Goldstein, David B.
Gordon, Mary G.
Gould, Sarah E.
Gourdine, JeanPhilippe F.
Graham, Brett H.
Groden, Catherine A.
Gropman, Andrea L.
Hackbarth, Mary E.
Haendel, Melissa
Hanchard, Neil A.
Handley, Lori H.
Hardee, Isabel
Herzog, Matthew R.
Holm, Ingrid A.
Howerton
,
Ellen
M
.
Jacob, Howard J.
Jain, Mahim
Jiang, Yong-hui
Johnston, Jean
M
.
Jones, Angela L.
Koehler, Alanna E.
Koeller, David
M
.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna
M
.
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Latham, Lea
Latour, Yvonne L.
Lau, C. Christopher
Lazar, Jozef
Lee, Brendan H.
Lee, Hane
Lee, Paul R.
Levy, Shawn E.
Levy, Denise J.
Lewis, Richard A.
Liebendorfer, Adam P.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
Macnamara,
Ellen
F.
MacRae, Calum A.
Maduro, Valerie V.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Mazur, Paul
McCarty, Alexandra J.
McConkie-Rosell, Allyn
McCray, Alexa T.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo
M
.
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna
M
.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Pena, Loren D.
M
.
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Ramoni, Rachel B.
Rodan, Lance H.
Rosenfeld, Jill A.
Sadozai, Sarah
Samson, Susan L.
Schaffer, Katherine E.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin K.
Sinsheimer, Janet S.
Soldatos, Ariane G.
Spillmann, Rebecca C.
Splinter, Kimberly
Stoler, Joan
M
.
Stong, Nicholas
Strong, Kimberly A.
Sullivan, Jennifer A.
Sweetser, David A.
Thomas, Sara P.
Tifft, Cynthia J.
Tolman, Nathanial J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer
M
.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl
M
.
Wahl, Colleen E.
Walley, Nicole
M
.
Walsh, Chris A.
Wangler, Michael F.
Warburton, Mike
Ward, Patricia A.
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Weech, Alec A.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yu, Guoyun
Zhang, Jing
Zornio, Patricia A.
Undiagnosed Dis Network
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Open Access (Wiley)
등재 - SCOPUS
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등재 - Web of Science
6
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
학술저널
issue
NATURE MEDICINE
; JUN 2019, 25 6, p911-p+, 24p.
Author
Fresard, Laure
Smail, Craig
Ferraro, Nicole
M
.
Teran, Nicole A.
Li, Xin
Smith, Kevin S.
Bonner, Devon
Kernohan, Kristin D.
Marwaha, Shruti
Zappala, Zachary
Balliu, Brunilda
Davis, Joe R.
Liu, Boxiang
Prybol, Cameron J.
Kohler, Jennefer N.
Zastrow, Diane B.
Reuter, Chloe
M
.
Fisk, Dianna G.
Grove, Megan E.
Davidson, Jean
M
.
Hartley, Taila
Joshi, Ruchi
Strober, Benjamin J.
Utiramerur, Sowmithri
Lind, Lars
Ingelsson, Erik
Battle, Alexis
Bejerano, Gill
Bernstein, Jonathan A.
Ashley, Euan A.
Boycott, Kym
M
.
Merker, Jason D.
Wheeler, Matthew T.
Montgomery, Stephen B.
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Baker, Eva
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Berry, Gerard T.
Bican, Anna
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brokamp, Elly
Brown, Donna
M
.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Colley, Heather A.
Cooper, Cynthia
M
.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
M
.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika
M
.
Duncan, Laura
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine
M
.
Enns, Gregory
M
.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica
M
.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Frances
Holm, Ingrid A.
Hom, Jason
Howerton
,
Ellen
M
.
Huang, Yong
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean
M
.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David
M
.
Kohane, Isaac S.
Krasnewich, Donna
M
.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara,
Ellen
F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta
M
.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, G. Martin
Martinez-Agosto, Julian A.
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo
M
.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Murphy, Jennifer L.
Muzny, Donna
M
.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D.
M
.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Renteria, Genecee
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shashi, Vandana
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Spillmann, Rebecca C.
Stoler, Joan
M
.
Stong, Nicholas
Sullivan, Jennifer A.
Sweetser, David A.
Tan, Queenie K. -G.
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl
M
.
Wahl, Colleen E.
Walley, Nicole
M
.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Westerfield, Monte
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, John
Yang, Yaping
Yoon, Amanda J.
Yu, Guoyun
Zhao, Chunli
Zheng, Allison
Boycott, Kym
MacKenzie, Alex
Majewski, Jacek
Brudno, Michael
Bulman, Dennis
Dyment, David
Undiagnosed Dis Network
Care4Rare Canada Consortium
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Database : Science Citation Index Expanded
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Full Text (Nature)
등재 - SCOPUS
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원문복사신청 - FRIC
7
Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network
학술저널
issue
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; JUN 2019, 179 6, p958-p965, 8p.
Author
Silverman, Edwin K.
Allard, Patrick
Loscalzo, Joseph
Mulvihill, John J.
Korrick, Susan A.
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Baker, Eva
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brokamp, Elly
Brown, Donna
M
.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Colley, Heather A.
Cooper, Cynthia
M
.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Davidson, Jean
M
.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
M
.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika
M
.
Duncan, Laura
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine
M
.
Enns, Gregory
M
.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica
M
.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Frances
Holm, Ingrid A.
Hom, Jason
Howerton
,
Ellen
M
.
Huang, Yong
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean
M
.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David
M
.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna
M
.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Maas, Richard L.
Macnamara,
Ellen
F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta
M
.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, Martin G.
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo
M
.
Morimoto, Marie
Murdock, David R.
Murphy, Jennifer L.
Muzny, Donna
M
.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D.
M
.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe
M
.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shashi, Vandana
Signer, Rebecca
Sinsheimer, Janet S.
Smith, Kevin S.
Spillmann, Rebecca C.
Stoler, Joan
M
.
Stong, Nicholas
Sullivan, Jennifer A.
Sweetser, David A.
Tan, Queenie K-G
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl
M
.
Wahl, Colleen E.
Walley, Nicole
M
.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, John
Yang, Yaping
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zheng, Allison
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Wiley-DB)
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원문복사신청 - RISS
8
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
학술저널
issue
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; JUN 2019, 179 6, p966-p977, 12p.
Author
Kumar, Akash
Zastrow, Diane B.
Kravets, Elijah J.
Beleford, Daniah
Ruzhnikov, Maura R. Z.
Grove, Megan E.
Dries, Annika
M
.
Kohler, Jennefer N.
Waggott, Daryl
M
.
Yang, Yaping
Huang, Yong
Mackenzie, Katherine
M
.
Eng, Christine
M
.
Fisher, Paul G.
Ashley, Euan A.
Teng, Joyce
M
.
Stevenson, David A.
Shieh, Joseph T.
Wheeler, Matthew T.
Bernstein, Jonathan A.
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Baker, Eva
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brokamp, Elly
Brown, Donna
M
.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Colley, Heather A.
Cooper, Cynthia
M
.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Davidson, Jean
M
.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
M
.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Eckstein, David J.
Emrick, Lisa T.
Enns, Gregory
M
.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fairbrother, Laura
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica
M
.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Francis
Holm, Ingrid A.
Hom, Jason
Howerton
,
Ellen
M
.
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean
M
.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David
M
.
Kohane, Isaac S.
Krasnewich, Donna
M
.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara,
Ellen
F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta
M
.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, Martin G.
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo
M
.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Murphy, Jennifer L.
Muzny, Donna
M
.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D.
M
.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe
M
.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shashi, Vandana
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Spillmann, Rebecca C.
Staler, Joan
M
.
Stong, Nicholas
Sullivan, Jennifer A.
Sweetser, David A.
Tan, Queenie K-G
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vilain, Eric
Vogel, Tiphanie P.
Wahl, Colleen E.
Walley, Nicole
M
.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Westerfield, Monte
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, John
Yoon, Amanda J.
Yu, Guoyun
Zhao, Chunli
Zheng, Allison
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Wiley-DB)
등재 - SCOPUS
조회 - Impact Factor (JCR)
등재 - Web of Science
원문복사신청 - RISS
9
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing
학술저널
issue
JOURNAL OF GENETIC COUNSELING
; APR 2019, 28 2, p213-p228, 16p.
Author
Zastrow, Diane B.
Kohler, Jennefer N.
Bonner, Devon
Reuter, Chloe
M
.
Fernandez, Liliana
Grove, Megan E.
Fisk, Dianna G.
Yang, Yaping
Eng, Christine
M
.
Ward, Patricia A.
Bick, David
Worthey, Elizabeth A.
Fisher, Paul G.
Ashley, Euan A.
Bernstein, Jonathan A.
Wheeler, Matthew T., III
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Baker, Eva
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Bican, Anna
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brokamp, Elly
Brown, Donna
M
.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Colley, Heather A.
Cooper, Cynthia
M
.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
M
.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika
M
.
Eckstein, David J.
Emrick, Lisa T.
Enns, Gregory
M
.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fairbrother, Laura
Ferreira, Carlos
Fieg, Elizabeth L.
Fogel, Brent L.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica
M
.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Francis
Holm, Ingrid A.
Hom, Jason
Howerton
,
Ellen
M
.
Huang, Yong
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean
M
.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David
M
.
Kohane, Isaac S.
Krasnewich, Donna
M
.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara,
Ellen
F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta
M
.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, G. Martin
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo
M
.
Morimoto, Marie
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shashi, Vandana
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Spillmann, Rebecca C.
Stoler, Joan
M
.
Stong, Nicholas
Sullivan, Jennifer A.
Sweetser, David A.
Tan, Queenie K. -G.
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl
M
.
Wahl, Colleen E.
Walley, Nicole
M
.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Yamamoto, Shinya
Yang, John
Yoon, Amanda J.
Yu, Guoyun
Zhao, Chunli
Zheng, Allison
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Wiley-DB)
등재 - SCOPUS
조회 - Impact Factor (JCR)
등재 - Web of Science
원문복사신청 - RISS
10
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region
학술저널
issue
EPILEPSIA
; MAR 2019, 60 3, p406-p418, 13p.
Author
Kelly, McKenna
Park, Meredith
Mihalek, Ivana
Rochtus, Anne
Gramm, Marie
Perez-Palma, Eduardo
Axeen, Erika Takle
Hung, Christina Y.
Olson, Heather
Swanson, Lindsay
Anselm, Irina
Briere, Lauren C.
High, Frances A.
Sweetser, David A.
Kayani, Saima
Snyder, Molly
Calvert, Sophie
Scheffer, Ingrid E.
Yang, Edward
Waugh, Jeff L.
Lal, Dennis
Bodamer, Olaf
Poduri, Annapurna
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Baker, Eva
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Bernstein, Jonathan A.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Brokamp, Elly
Brown, Donna
M
.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Colley, Heather A.
Cooper, Cynthia
M
.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Davidson, Jean
M
.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
M
.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika
M
.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine
M
.
Enns, Gre-Gory
M
.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fairbrother, Laura
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica
M
.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Francis
Holm, Ingrid A.
Horn, Jason
Howerton
,
Ellen
M
.
Huang, Yong
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean
M
.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David
M
.
Kohane, Isaac S.
Kohler, Jennefer N.
Konick, Susan
Koziura, Mary
Krasnewich, Donna
M
.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara,
Ellen
F.
MacRae, Calum A.
Maduro, Valerie V.
Majch-erska, Marta
M
.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, Martin G.
Martinez-Agosto, Julian A.
Mar-waha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa F.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo
M
.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Murphy, Jennifer L.
Muzny, Donna
M
.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D.
M
.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe
M
.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shashi, Vandana
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Spillmann, Rebecca C.
Stoler, Joan
M
.
Stong, Nicholas
Sullivan, Jennifer A.
Tan, Queenie K-G
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl
M
.
Wahl, Colleen E.
Walker, Melissa
Walley, Nicole
M
.
Walsh, Chris A.
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina
M
.
Webb-Robertson, Bobbie-Jo
M
.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zheng, Allison
Undiagnosed Dis Network
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Wiley-DB)
등재 - SCOPUS
조회 - Impact Factor (JCR)
등재 - Web of Science
원문복사신청 - FRIC
1
2
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진주교육대학교 도서관
창원대학교 중앙도서관
청주대학교 중앙도서관
추계예술대학교 전자정보도서관
충남대학교 디지털도서관
충북대학교 도서관
포항공과대학교 청암학술정보관
한국과학기술원 전자도서관
한국교원대학교 도서관
한국기술교육대학교 다산정보관
한국외국어대학교 도서관
한국체육대학교 학술정보시스템
한국해양대학교 도서관
한남대학교 학술정보관
한동대학교 학술정보관
한림대학교 일송기념도서관
한밭대학교 도서관
한서대학교 중앙도서관
한성대학교 학술정보관
한양대학교 백남학술정보관
한양대학교 안산학술정보관
호남대학교 중앙도서관
홍익대학교 중앙도서관
화순전남대병원의학도서실
참고정보원
RISS-한국교육학술정보원
NDSL 과학기술정보통합서비스
건설연구정보센터(서울대학교)
과학기술정책연구원(STEPI)
광주과학기술원(K-JIST)
국내의학학술지 초록검색
기계공학연구정보센터(부산대학교)
농생명과학연구정보센터(서울대학교)
대외경제정책연구원(KIEP)
물리학연구정보센터(서울대학교)
보건연구정보센터(전남대학교)
생물학연구정보센터(포항공과대학교)
의약연구정보센터(숙명여자대학교)
의학연구정보센터(충북대학교)
재료연구정보센터(경북대학교)
테크노경영연구정보센터
한국과학기술연구원(KIST)
한국과학기술원(KAIST)
한국과학기술정보연구원(KISTI)
한국교육개발원(KEDI)
한국기계연구원(KIMM)
한국기초과학지원연구원(KBSI)
한국문화예술진흥원(KCAF)
한국생명공학연구원(KRIBB)
한국에너지기술연구원(KIER)
한국원자력연구원(KAERI)
한국전기연구원(KERI)
한국전자통신연구원(ETRI)
한국지질자원연구원(KIGAM)
한국표준과학연구원(KRISS)
한국항공우주연구원(KARI)
한국해양연구원(KORDI)
한국화학연구원(KRICT)
한국환경정책평가연구원
화학공학연구정보센터(고려대학교)
환경지질연구정보센터(연세대학교)