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: "Welland, M.J."]
총 31건 
※ 중복 레코드가 제거된 검색 결과가 표시됩니다.
1/4 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 (24)
    • Magazines (6)
    • Books (1)

    재검색

  • 주제
    • fusion (phase transformation) (3)
    • laser heating (3)
    • nuclear fuels (3)

    더보기

    재검색

  • 간행물
    • genetics in medicine (10)
    • journal of nuclear materials (10)
    • calphad (3)

    더보기

    재검색

  • 출판사
    • elsevier b.v. (16)
    • elsevier inc. (5)
    • elsevier ltd (3)

    더보기

    재검색

  • 언어
    • english (25)

    재검색

  • Publication Year
    • 2008 (1)
    • 2009 (1)
    • 2011 (1)

    더보기

    재검색

  • 수록데이터베이스
    • ScienceDirect (15)
    • Academic Search Complete (10)
    • Supplemental Index (6)

    재검색

  • PQDTSearch
  • CAJSearch
  • RISSSearch
  • PsycINFOSearch

 

2
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections 미리보기

학술저널

issue
In Genetics in Medicine February 2024 26(2)
Author
Borras, Silvia
Clark, Caroline
Dean, John
Miedzybrodzka, Zosia
Ross, Alison
Tennant, Stephen
Dabir, Tabib
Donnelly, Deirdre
Humphreys, Mervyn
Magee, Alex
McConnell, Vivienne
McKee, Shane
McNerlan, Susan
Morrison, Patrick J.
Rea, Gillian
Stewart, Fiona
Cole, Trevor
Cooper, Nicola
Cooper-Charles, Lisa
Cox, Helen
Islam, Lily
Jarvis, Joanna
Keelagher, Rebecca
Lim, Derek
McMullan, Dominic
Morton, Jenny
Naik, Swati
O’Driscoll, Mary
Ong, Kai-Ren
Osio, Deborah
Ragge, Nicola
Turton, Sarah
Vogt, Julie
Williams, Denise
Bodek, Simon
Donaldson, Alan
Hills, Alison
Low, Karen
Newbury-Ecob, Ruth
Norman, Andrew M.
Roberts, Eileen
Scurr, Ingrid
Smithson, Sarah
Tooley, Madeleine
Abbs, Steve
Armstrong, Ruth
Dunn, Carolyn
Holden, Simon
Park, Soo-Mi
Paterson, Joan
Raymond, Lucy
Reid, Evan
Sandford, Richard
Simonic, Ingrid
Tischkowitz, Marc
Woods, Geoff
Bradley, Lisa
Comerford, Joanne
Green, Andrew
Lynch, Sally
McQuaid, Shirley
Mullaney, Brendan
Berg, Jonathan
Goudie, David
Mavrak, Eleni
McLean, Joanne
McWilliam, Catherine
Reavey, Eleanor
Azam, Tara
Cleary, Elaine
Jackson, Andrew
Lam, Wayne
Lampe, Anne
Moore, David
Porteous, Mary
Baple, Emma
Baptista, Júlia
Brewer, Carole
Castle, Bruce
Kivuva, Emma
Owens, Martina
Rankin, Julia
Shaw-Smith, Charles
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Bradley, Therese
Davidson, Rosemarie
Gardiner, Carol
Joss, Shelagh
Kinning, Esther
Longman, Cheryl
McGowan, Ruth
Murday, Victoria
Pilz, Daniela
Tobias, Edward
Whiteford, Margo
Williams, Nicola
Barnicoat, Angela
Clement, Emma
Faravelli, Francesca
Hurst, Jane
Jenkins, Lucy
Jones, Wendy
Ajith Kumar, V.K.
Lees, Melissa
Loughlin, Sam
Male, Alison
Morrogh, Deborah
Rosser, Elisabeth
Scott, Richard
Wilson, Louise
Beleza, Ana
Deshpande, Charu
Flinter, Frances
Holder, Muriel
Irving, Melita
Izatt, Louise
Josifova, Dragana
Mohammed, Shehla
Molenda, Aneta
Robert, Leema
Roworth, Wendy
Ruddy, Deborah
Ryten, Mina
Yau, Shu
Bennett, Christopher
Blyth, Moira
Campbell, Jennifer
Coates, Andrea
Dobbie, Angus
Hewitt, Sarah
Hobson, Emma
Jackson, Eilidh
Jewell, Rosalyn
Kraus, Alison
Prescott, Katrina
Sheridan, Eamonn
Thomson, Jenny
Bradshaw, Kirsty
Dixit, Abhijit
Eason, Jacqueline
Haines, Rebecca
Harrison, Rachel
Mutch, Stacey
Sarkar, Ajoy
Searle, Claire
Shannon, Nora
Sharif, Abid
Suri, Mohnish
Vasudevan, Pradeep
Canham, Natalie
Ellis, Ian
Greenhalgh, Lynn
Howard, Emma
Stinton, Victoria
Swale, Andrew
Weber, Astrid
Banka, Siddharth
Breen, Catherine
Briggs, Tracy
Burkitt-Wright, Emma
Chandler, Kate
Clayton-Smith, Jill
Donnai, Dian
Douzgou, Sofia
Gaunt, Lorraine
Jones, Elizabeth
Kerr, Bronwyn
Langley, Claire
Metcalfe, Kay
Smith, Audrey
Wright, Ronnie
Bourn, David
Burn, John
Fisher, Richard
Hellens, Steve
Henderson, Alex
Montgomery, Tara
Splitt, Miranda
Straub, Volker
Wright, Michael
Zwolinski, Simon
Allen, Zoe
Bernhard, Birgitta
Brady, Angela
Brooks, Claire
Busby, Louise
Clowes, Virginia
Ghali, Neeti
Holder, Susan
Ibitoye, Rita
Wakeling, Emma
Blair, Edward
Carmichael, Jenny
Cilliers, Deirdre
Clasper, Susan
Gibbons, Richard
Kini, Usha
Lester, Tracy
Nemeth, Andrea
Poulton, Joanna
Price, Sue
Shears, Debbie
Stewart, Helen
Wilkie, Andrew
Albaba, Shadi
Baker, Duncan
Balasubramanian, Meena
Johnson, Diana
Parker, Michael
Quarrell, Oliver
Stewart, Alison
Willoughby, Josh
Crosby, Charlene
Elmslie, Frances
Homfray, Tessa
Jin, Huilin
Lahiri, Nayana
Mansour, Sahar
Marks, Karen
McEntagart, Meriel
Saggar, Anand
Tatton-Brown, Kate
Butler, Rachel
Clarke, Angus
Corrin, Sian
Fry, Andrew
Kamath, Arveen
McCann, Emma
Mugalaasi, Hood
Pottinger, Caroline
Procter, Annie
Sampson, Julian
Sansbury, Francis
Varghese, Vinod
Baralle, Diana
Callaway, Alison
Cassidy, Emma J.
Daniels, Stacey
Douglas, Andrew
Foulds, Nicola
Hunt, David
Kharbanda, Mira
Lachlan, Katherine
Mercer, Catherine
Side, Lucy
Temple, I. Karen
Wellesley, Diana
Ambrose, J.C.
Arumugam, P.
Baple, E.L.
Bleda, M.
Boardman-Pretty, F.
Boissiere, J.M.
Boustred, C.R.
Caulfield, M.J.
Chan, G.C.
Craig, C.E.H.
Daugherty, L.C.
de Burca, A.
Devereau, A.
Elgar, G.
Foulger, R.E.
Fowler, T.
FurióTarí, P.
Hackett, J.M.
Halai, D.
Hamblin, A.
Henderson, S.
Holman, J.E.
Hubbard, T.J.P.
Ibáñez, K.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Lahnstein, L.
Lawson, K.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
MaleadyCrowe, F.
Mason, J.
McDonagh, E.M.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Polychronopoulos, D.
Pullinger, J.
Rahim, T.
Rendon, A.
Riesgo-Ferreiro, P.
Rogers, T.
Ryten, M.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smedley, D.
Smith, K.R.
Sosinsky, A.
Spooner, W.
Stevens, H.E.
Stuckey, A.
Sultana, R.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Walsh, E.
Watters, S.A.
Welland, M.J.
Williams, E.
Witkowska, K.
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Agrawal, Pankaj B.
Alejandro, Mercedes E.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bennet, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonnenmann, Carsten
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brokamp, Elly
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Peter Chang, Ta Chen
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.
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davids, Mariska
Dayal, Jyoti G.
Deardorff, Matthew
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Douine, Emilie D.
Draper, David D.
Duncan, Laura
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Falk, Marni
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Findley, Laurie C.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fresard, Laure
Gahl, William A.
Glass, Ian
Godfrey, Rena A.
Golden-Grant, Katie
Goldman, Alica M.
Goldstein, David B.
Grajewski, Alana
Groden, Catherine A.
Gropman, Andrea L.
Gutierrez, Irma
Hahn, Sihoun
Hamid, Rizwan
Hanchard, Neil A.
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yong
Isasi, Rosario
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Johnston, Jean M.
Karaviti, Lefkothea
Kelley, Emily G.
Kennedy, Jennifer
Kiley, Dana
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
Lau, C. Christopher
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
Lewis, Richard A.
Lincoln, Sharyn 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.
Majcherska, Marta M.
Mak, Bryan
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Markello, Thomas C.
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McCormack, Colleen E.
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Nakano-Okuno, Mariko
Nath, Avi
Nelson, Stan 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
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey, Barbara N.
Quinlan, Aaron
Raskind, Wendy
Raja, Archana N.
Rao, Deepak A.
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Scott, C. Ron
Schaechter, Judy
Schedl, Timothy
Scott, Daryl A.
Sharma, Prashant
Shin, Jimann
Signer, Rebecca
Sillari, Catherine H.
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solem, Emily
Solnica-Krezel, Lilianna
Stoler, Joan M.
Stong, Nicholas
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tamburro, Cecelia P.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Tucker, Brianna M.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Wallace, Stephanie
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-Kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Wener, Mark
Wenger, Tara
Perry, Katherine Wesseling
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Woods, Jeremy D.
Yamamoto, Shinya
Yang, John
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zuchner, Stephan
Jeffries, Lauren
Mis, Emily K.
McWalter, Kirsty
Donkervoort, Sandra
Brodsky, Nina N.
Carpier, Jean-Marie
Ji, Weizhen
Ionita, Cristian
Roy, Bhaskar
Morrow, Jon S.
Darbinyan, Armine
Iyer, Krishna
Aul, Ritu B.
Chao, Katherine R.
Cobbold, Laura
Cohen, Stacey
Custodio, Helena M.
Drummond-Borg, Margaret
Finanger, Erika
Hainline, Bryan E.
Helbig, Ingo
Hewson, Stacy
Hu, Ying
Jackson, Adam
Konstantino, Monica
Leach, Meganne E.
McCormick, David
Nelson, Stanley
Nguyen, Joanne
Nugent, Kimberly
Ortega, Lucy
Goodkin, Howard P.
Roeder, Elizabeth
Roy, Sani
Sapp, Katie
Saade, Dimah
Sisodiya, Sanjay M.
Stals, Karen
Towner, Shelley
Wilson, William
Khokha, Mustafa K.
Bönnemann, Carsten G.
Lucas, Carrie L.
Lakhani, Saquib A.
DB Label
Database : ScienceDirect
원문보기
등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
3
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder 미리보기

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
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
5
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish 미리보기

학술저널

issue
In Genetics in Medicine October 2021 23(10):1933-1943
Author
Lin, Sheng-Jia
Vona, Barbara
Barbalho, Patricia G.
Kaiyrzhanov, Rauan
Maroofian, Reza
Petree, Cassidy
Severino, Mariasavina
Stanley, Valentina
Varshney, Pratishtha
Bahena, Paulina
Alzahrani, Fatema
Alhashem, Amal
Pagnamenta, Alistair T.
Aubertin, Gudrun
Estrada-Veras, Juvianee I.
Hernández, Héctor Adrián Díaz
Mazaheri, Neda
Oza, Andrea
Thies, Jenny
Renaud, Deborah L.
Dugad, Sanmati
McEvoy, Jennifer
Sultan, Tipu
Pais, Lynn S.
Tabarki, Brahim
Villalobos-Ramirez, Daniel
Rad, Aboulfazl
Ambrose, J.C.
Arumugam, P.
Bleda, M.
Boardman-Pretty, F.
Boustred, C.R.
Brittain, H.
Caulfield, M.J.
Chan, G.C.
Fowler, T.
Giess, A.
Hamblin, A.
Henderson, S.
Hubbard, T.J.P.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Kousathanas, A.
Lahnstein, L.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
Maleady-Crowe, F.
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.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Walsh, E.
Welland, M.J.
Williams, E.
Witkowska, K.
Wood, S.M.
Galehdari, Hamid
Ashrafzadeh, Farah
Sahebzamani, Afsaneh
Saeidi, Kolsoum
Torti, Erin
Elloumi, Houda Z.
Mora, Sara
Palculict, Timothy B.
Yang, Hui
Wren, Jonathan D.
Ben Fowler
Joshi, Manali
Behra, Martine
Burgess, Shawn M.
Nath, Swapan K.
Hanna, Michael G.
Kenna, Margaret
Merritt, J. Lawrence, II
Houlden, Henry
Karimiani, Ehsan Ghayoor
Zaki, Maha S.
Haaf, Thomas
Alkuraya, Fowzan S.
Gleeson, Joseph G.
Varshney, Gaurav K.
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
1 2 3 4 
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.
  • 52520
  • 130139736