전남대학교 중앙도서관

  • 중앙도서관
  • 여수캠퍼스도서관
  • 법학도서관
  • 치의학도서관
  • 의학도서관

링크메뉴

  • 화면키우기 화면줄이기 화면크기 원래대로
  • S
  • HOME
  • 로그인
  • 전남대
  • ENG
  • CHN

주메뉴

전체메뉴

전자자료 상세검색

전자자료 상세검색

통합검색
상세검색
검색어 [키워드: "Dries, Annika"]
총 79건 
※ 중복 레코드가 제거된 검색 결과가 표시됩니다.
1/8 페이지 RSS 엑셀파일 출력
검색결과수정
  • 검색범위확장
    • Full Text내 키워드 확장
    • 관련 주제어 확장

    재검색

  • 검색결과제한
    • 원문(Full Text)
    • Peer-Reviewed 학술지
    • 발행년 -

    재검색

  • 자료유형
    • Academic Journals (75)
    • Magazines (4)

    재검색

  • 주제
    • genetics (15)
    • rare diseases (12)
    • exome sequencing (11)

    더보기

    재검색

  • 간행물
    • genetics in medicine (12)
    • journal of genetic counseling (7)
    • human mutation (5)

    더보기

    재검색

  • 출판사
    • wiley (12)
    • escholarship, university of california (7)
    • elsevier inc. (5)

    더보기

    재검색

  • 언어
    • english (68)

    재검색

  • Publication Year
    • 2017 (1)
    • 2018 (1)
    • 2019 (1)

    재검색

  • 수록데이터베이스
    • Science Citation Index Expanded (26)
    • MEDLINE (14)
    • eScholarship (7)

    더보기

    재검색

  • PQDTSearch
  • CAJSearch
  • RISSSearch
  • PsycINFOSearch

 

1
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability 미리보기

학술저널

issue
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Author
Agrawal, Pankaj
Armstrong Scott, Daryl
Barkoudah, Elizabeth
Bellini, Melissa
Beneteau, Claire
Bjørgo, Kathrine
Brooks, Alice
Brown, Natasha
Castle, Alison
Castro, Diana
Chorin, Odelia
Cleghorn, Mark
Clement, Emma
Coman, David
Costin, Carrie
Devriendt, Koen
Dong, Dexin
Dries, Annika
Duelund Hjortshøj, Tina
Dyment, David
Eng, Christine
Genetti, Casie
Grano, Siera
Henneman, Peter
Heron, Delphine
Hoffmann, Katrin
Hom, Jason
Du, Haowei
Iascone, Maria
Isidor, Bertrand
Järvelä, Irma E.
Jones, Julie
Keren, Boris
Koenig, Mary Kay
Kohlhase, Jürgen
Lalani, Seema
Le Caignec, Cedric
Lewis, Andi
Liu, Pengfei
Lovgren, Alysia
Lupski, James R.
Lyons, Mike
Lysy, Philippe
Manning, Melanie
Marcelis, Carlo
McLean, Scott Douglas
Mercie, Sandra
Mertens, Mareike
Molin, Arnaud
Nizon, Mathilde
Nugent, Kimberly Margaret
Öhman, Susanna
O'Leary, Melanie
Okashah Littlejohn, Rebecca
Petit, Florence
Pfundt, Rolph
Pottocki, Lorraine
Raas-Rotschild, Annick
Ranguin, Kara
Revencu, Nicole
Rosenfeld, Jill
Rhodes, Lindsay
Santos Simmaro, Fernando
Sals, Karen
Schieving, Jolanda
Schrauwen, Isabelle
Schuurs-Hoeijmakers, Janneke H.M.
Seaby, Eleanor G.
Sheffer, Ruth
Snijders Blok, Lot
Sørensen, Kristina P.
Srivastava, Siddharth
Stark, Zornitza
Stoeva, Radka
Stutterd, Chloe
Tan, Natalie B.
Mathiesen Torring, Pernille
Vanakker, Olivier
van der Laan, Liselot
Ververi, Athina
Villavicencio-Lorini, Pablo
Vincent, Marie
Wand, Dorothea
Wessels, Marja
White, Sue
Wojcik, Monica H.
Wu, Nan
Zhao, Sen
Pérez Baca, María del Rocío
Jacobs, Eva Z.
Vantomme, Lies
Leblanc, Pontus
Bogaert, Elke
Dheedene, Annelies
De Cock, Laurenz
Haghshenas, Sadegheh
Foroutan, Aidin
Levy, Michael A.
Kerkhof, Jennifer
McConkey, Haley
Chen, Chun-An
Batzir, Nurit Assia
Wang, Xia
Palomares, María
Carels, Marieke
Dermaut, Bart
Sadikovic, Bekim
Menten, Björn
Yuan, Bo
Vergult, Sarah
Callewaert, Bert
DB Label
Database : ScienceDirect
원문보기
등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
3
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis 미리보기

학술저널

issue
Human Mutation. 40(8)
Author
Shashi, Vandana
Geist, Janelle
Lee, Youngha
Yoo, Yongjin
Shin, Unbeom
Schoch, Kelly
Sullivan, Jennifer
Stong, Nicholas
Smith, Edward
Jasien, Joan
Kranz, Peter
Lee, Yoonsung
Shin, Yong Beom
Wright, Nathan T
Choi, Murim
Kontrogianni‐Konstantopoulos, Aikaterini
Acosta, Maria T
Adams, David R
Aday, Aaron
Alejandro, Mercedes E
Allard, Patrick
Ashley, Euan A
Azamian, Mahshid S
Bacino, Carlos A
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Barbouth, Deborah
Batzli, Gabriel F
Beggs, Alan H
Bellen, Hugo J
Bernstein, Jonathan A
Berry, Gerard T
Bican, Anna
Bick, David P
Birch, Camille L
Bivona, Stephanie
Bonnenmann, Carsten
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
Carrasquillo, Olveen
Chang, Ta Chen Peter
Chao, Hsiao‐Tuan
Clark, Gary D
Coakley, Terra R
Cobban, Laurel A
Cogan, Joy D
Cole, F Sessions
Colley, Heather A
Cooper, Cynthia M
Cope, Heidi
Craigen, William J
D'Souza, Precilla
Dasari, Surendra
Davids, Mariska
Davidson, Jean M
Dayal, Jyoti G
Dell'Angelica, Esteban C
Dhar, Shweta U
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
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L
Fisher, Paul G
Fogel, Brent L
Forghani, Irman
Friedman, Noah D
Gahl, William A
Godfrey, Rena A
Goldman, Alica M
Goldstein, David B
Gourdine, Jean‐Philippe F
Grajewski, Alana
Groden, Catherine A
Gropman, Andrea L
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A
High, Frances
Holm, Ingrid A
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
5
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells 미리보기

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) 
6
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes 미리보기

학술저널

issue
American Journal of Human Genetics. 104(3)
Author
Burrage, Lindsay C
Reynolds, John J
Baratang, Nissan Vida
Phillips, Jennifer B
Wegner, Jeremy
McFarquhar, Ashley
Higgs, Martin R
Christiansen, Audrey E
Lanza, Denise G
Seavitt, John R
Jain, Mahim
Li, Xiaohui
Parry, David A
Raman, Vandana
Chitayat, David
Chinn, Ivan K
Bertuch, Alison A
Karaviti, Lefkothea
Schlesinger, Alan E
Earl, Dawn
Bamshad, Michael
Savarirayan, Ravi
Doddapaneni, Harsha
Muzny, Donna
Jhangiani, Shalini N
Eng, Christine M
Gibbs, Richard A
Bi, Weimin
Emrick, Lisa
Rosenfeld, Jill A
Postlethwait, John
Westerfield, Monte
Dickinson, Mary E
Beaudet, Arthur L
Ranza, Emmanuelle
Huber, Celine
Cormier-Daire, Valérie
Shen, Wei
Mao, Rong
Heaney, Jason D
Orange, Jordan S
Genomics, University of Washington Center for Mendelian
Network, Undiagnosed Diseases
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
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
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
Enns, Gregory M
Eskin, Ascia
Esteves, Cecilia
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
10
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling 미리보기

학술저널

issue
In Biological Psychiatry 15 January 2020 87(2):100-112
Author
Pena, Loren
Shashi, Vandana
Schoch, Kelly
Sullivan, Jennifer A.
Acosta, Maria T.
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Barbouth, Deborah
Batzli, Gabriel F.
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bivona, Stephanie
Bonnenmann, Carsten
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.
Carrasquillo, Olveen
Peter Chang, Ta Chen
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Cole, F. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Dasari, Surendra
Davids, Mariska
Davidson, Jean M.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
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.
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Friedman, Noah D.
Gahl, William A.
Godfrey, Rena A.
Goldman, Alica M.
Goldstein, David B.
Gourdine, Jean-Philippe F.
Grajewski, Alana
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Frances
Holm, Ingrid A.
Hom, Jason
Huang, Alden
Huang, Yong
Isasi, Rosario
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Karaviti, Lefkothea
Kelley, Emily G.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lam, Byron
Lanpher, Brendan C.
Lanza, Ian R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Liu, Pengfei
Liu, Xue Zhong
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.
Martínez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McCauley, Jacob
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Morava-Kozicz, Eva
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Nath, Avi
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pak, Stephen
Pallais, J. Carl
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Renteri, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rowley, Robb K.
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shields, Kathleen
Shin, Jimann
Signer, Rebecca
Sillari, Catherine H.
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Spillmann, Rebecca C.
Stoler, Joan M.
Stong, Nicholas
Sweetser, David A.
Tamburro, Cecelia P.
Tan, Queenie K.-G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Wegner, Daniel
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Woods, Jeremy D.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, John
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zuchner, Stephan
Gahl, William
Johnson, Brett V.
Kumar, Raman
Oishi, Sabrina
Alexander, Suzy
Kasherman, Maria
Vega, Michelle Sanchez
Ivancevic, Atma
Gardner, Alison
Domingo, Deepti
Corbett, Mark
Parnell, Euan
Yoon, Sehyoun
Oh, Tracey
Lines, Matthew
Lefroy, Henrietta
Kini, Usha
Van Allen, Margot
Grønborg, Sabine
Mercier, Sandra
Küry, Sébastien
Bézieau, Stéphane
Pasquier, Laurent
Raynaud, Martine
Afenjar, Alexandra
Billette de Villemeur, Thierry
Keren, Boris
Désir, Julie
Van Maldergem, Lionel
Marangoni, Martina
Dikow, Nicola
Koolen, David A.
VanHasselt, Peter M.
Weiss, Marjan
Zwijnenburg, Petra
Sa, Joaquim
Reis, Claudia Falcao
López-Otín, Carlos
Santiago-Fernández, Olaya
Fernández-Jaén, Alberto
Rauch, Anita
Steindl, Katharina
Joset, Pascal
Goldstein, Amy
Madan-Khetarpal, Suneeta
Infante, Elena
Zackai, Elaine
Mcdougall, Carey
Narayanan, Vinodh
Ramsey, Keri
Mercimek-Andrews, Saadet
Pinto e Vairo, Filippo
Pichurin, Pavel N.
Ewing, Sarah A.
Barnett, Sarah S.
Klee, Eric W.
Perry, M. Scott
Koenig, Mary Kay
Keegan, Catherine E.
Schuette, Jane L.
Asher, Stephanie
Perilla-Young, Yezmin
Smith, Laurie D.
Bhoj, Elizabeth
Kaplan, Paige
Li, Dong
Oegema, Renske
van Binsbergen, Ellen
van der Zwaag, Bert
Smeland, Marie Falkenberg
Cutcutache, Ioana
Page, Matthew
Armstrong, Martin
Lin, Angela E.
Steeves, Marcie A.
Hollander, Nicolette den
Hoffer, Mariëtte J.V.
Reijnders, Margot R.F.
Demirdas, Serwet
Koboldt, Daniel C.
Bartholomew, Dennis
Mosher, Theresa Mihalic
Hickey, Scott E.
Shieh, Christine
Sanchez-Lara, Pedro A.
Graham, John M., Jr.
Tezcan, Kamer
Schaefer, G.B.
Danylchuk, Noelle R.
Asamoah, Alexander
Jackson, Kelly E.
Yachelevich, Naomi
Au, Margaret
Pérez-Jurado, Luis A.
Kleefstra, Tjitske
Penzes, Peter
Wood, Stephen A.
Burne, Thomas
Pierson, Tyler Mark
Piper, Michael
Gécz, Jozef
Jolly, Lachlan A.
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect)  Full Text (Clinical Key)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
1 2 3 4 5  
바구니보기

QUICK LINK

  • 희망도서신청
  • 대출/연장조회
  • 서가부재도서
  • 이용교육

마이메뉴추가

QRCode
  • 개인정보호정책
  • 이메일무단수집거부
  • 도서관이용문의

    • 도서관자치위원회  원격제어  Instagram  facebook  w  kakao 플친
500-757 광주광역시 북구 용봉로 77 TEL 062)530-3571~2(대출반납실) FAX 062)530-3529
Copyright@2013 CHONNAM NATIONAL UNIVERSITY LIBRARY, All Rights Reserved.
  • 115322
  • 130516421