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1
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy 미리보기

학술저널

issue
Nature Genetics. 56(4):585-594
Author
Fehlings, Darcy L.Aff1, Aff2
Zarrei, MehdiAff3, Aff4
Engchuan, Worrawat
Sondheimer, NealAff2, Aff4, Aff5
Thiruvahindrapuram, Bhooma
MacDonald, Jeffrey R.Aff3, Aff4
Higginbotham, Edward J.Aff3, Aff6
Thapa, Ritesh
Behlim, Tarannum
Aimola, Sabrina
Switzer, Lauren
Ng, Pamela
Wei, John
Danthi, Prakroothi S.
Pellecchia, Giovanna
Lamoureux, Sylvia
Ho, Karen
Pereira, Sergio L.
de Rijke, Jill
Sung, Wilson W. L.Aff3, Aff4
Mowjoodi, AlirezaAff3, Aff4
Howe, Jennifer L.
Nalpathamkalam, Thomas
Manshaei, RoozbehAff3, Aff8
Ghaffari, SiavashAff3, Aff4
Whitney, Joseph
Patel, Rohan V.
Hamdan, Omar
Shaath, Rulan
Trost, BrettAff3, Aff4
Knights, ShannonAff2, Aff9
Samdup, Dawa
McCormick, Anna
Hunt, Carolyn
Kirton, Adam
Kawamura, AnneAff1, Aff2
Mesterman, Ronit
Gorter, Jan Willem
Dlamini, NomazuluAff2, Aff14, Aff15
Merico, DanieleAff3, Aff16, Aff31
Hilali, Murto
Hirschfeld, Kyle
Grover, Kritika
Bautista, Nelson X.
Han, Kara
Marshall, Christian R.
Yuen, Ryan K. C.Aff3, Aff4, Aff5
Subbarao, PadmajaAff2, Aff13, Aff17
Azad, Meghan B.
Turvey, Stuart E.
Mandhane, Piush
Moraes, Theo J.Aff2, Aff21
Simons, Elinor
Maxwell, George
Shevell, MichaelAff7, Aff24
Costain, GregoryAff2, Aff4, Aff6, Aff25
Michaud, Jacques L.Aff26, Aff27
Hamdan, Fadi F.Aff27, Aff28
Gauthier, JulieAff27, Aff28
Uguen, Kevin
Stavropoulos, Dimitri J.Aff6, Aff29
Wintle, Richard F.
Oskoui, MaryamAff7, Aff24
Scherer, Stephen W.Aff3, Aff4, Aff30, IDs4158802401686x_cor64
DB Label
Database : Springer Nature Journals
원문보기
Full Text (Nature)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
6
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 미리보기

학술저널

issue
JOURNAL OF CLINICAL INVESTIGATION; JAN 2 2024, 134 1, pe171235 16p.
Author
Li, Dong
Wang, Qin
Bayat, Allan
Battig, Mark R.
Zhou, Yijing
Bosch, Danielle G. M.
van Haaften, Gijs
Granger, Leslie
Petersen, Andrea K.
Perez-Jurado, Luis A.
Aznar-Lain, Gemma
Aneja, Anushree
Hancarova, Miroslava
Bendova, Sarka
Schwarz, Martin
Pourova, Radka Kremlikova
Sedlacek, Zdenek
Keena, Beth A.
March, Michael E.
Hou, Cuiping
O'Connor, Nora
Bhoj, Elizabeth J.
Harr, Margaret H.
Lemire, Gabrielle
Boycott, Kym M.
Towne, Meghan
Li, Megan
Tarnopolsky, Mark
Brady, Lauren
Parker, Michael J.
Faghfoury, Hanna
Parsley, Lea Kristin
Agolini, Emanuele
Dentici, Maria Lisa
Novelli, Antonio
Wright, Meredith
Palmquist, Rachel
Lai, Khanh
Scala, Marcello
Striano, Pasquale
Iacomino, Michele
Zara, Federico
Cooper, Annina
Maarup, Timothy J.
Byler, Melissa
Lebel, Robert Roger
Balci, Tugce B.
Louie, Raymond
Lyons, Michael
Douglas, Jessica
Nowak, Catherine
Afenjar, Alexandra
Hoyer, Juliane
Keren, Boris
Maas, Saskia M.
Motazacker, Mahdi M.
Martinez-Agosto, Julian A.
Rabani, Ahna M.
McCormick, Elizabeth M.
Falk, Marni J.
Ruggiero, Sarah M.
Helbig, Ingo
Moller, Rikke S.
Tessarollo, Lino
Ardori, Francesco Tomassoni
Palko, Mary Ellen
Hsieh, Tzung-Chien
Krawitz, Peter M.
Ganapathi, Mythily
Gelb, Bruce D.
Jobanputra, Vaidehi
Wilson, Ashley
Greally, John
Jacquemont, Sebastien
Jizi, Khadije
Bruel, Ange-Line
Quelin, Chloe
Misra, Vinod K.
Chick, Erika
Romano, Corrado
Greco, Donatella
Arena, Alessia
Morleo, Manuela
Nigro, Vincenzo
Seyama, Rie
Uchiyama, Yuri
Matsumoto, Naomichi
Taira, Ryoji
Tashiro, Katsuya
Sakai, Yasunari
Yigit, Gokhan
Wollnik, Bernd
Wagner, Michael
Kutsche, Barbara
Hurst, Anna C. E.
Thompson, Michelle L.
Schmidt, Ryan
Randolph, Linda
Spillmann, Rebecca C.
Shashi, Vandana
Higginbotham, Edward J.
Cordeiro, Dawn
Carnevale, Amanda
Costain, Gregory
Khan, Tayyaba
Funalot, Benoit
Mau-Them, Frederic Tran
Moya, Luis Fernandez Garcia
Garcia-Minaur, Sixto
Osmond, Matthew
Chad, Lauren
Quercia, Nada
Carrasco, Diana
Li, Chumei
Sanchez-Valle, Amarilis
Kelley, Meghan
Nizon, Mathilde
Jensson, Brynjar O.
Sulem, Patrick
Stefansson, Kari
Gorokhova, Svetlana
Busa, Tiffany
Rio, Marlene
Habdallah, Hamza Hadj
Lesieur-Sebellin, Marion
Amiel, Jeanne
Pingault, Veronique
Mercier, Sandra
Vincent, Marie
Philippe, Christophe
Fatus-Fauconnier, Clemence
Friend, Kathryn
Halligan, Rebecca K.
Biswas, Sunita
Rosser, Jane
Shoubridge, Cheryl
Corbett, Mark
Barnett, Christopher
Gecz, Jozef
Leppig, Kathleen
Slavotinek, Anne
Marcelis, Carlo
Pfundt, Rolph
de Vries, Bert B. A.
van Slegtenhorst, Marjon A.
Brooks, Alice S.
Cogne, Benjamin
Rambaud, Thomas
Tumer, Zeynep
Zackai, Elaine H.
Akizu, Naiara
Song, Yuanquan
Hakonarson, Hakon
DB Label
Database : Science Citation Index Expanded
원문보기
등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
9
A large data resource of genomic copy number variation across neurodevelopmental disorders 미리보기

학술저널

issue
npj Genomic Medicine. 4(1)
Author
Zarrei, MehdiAff1, Aff2
Burton, Christie L.
Engchuan, WorrawatAff1, Aff2
Young, Edwin J.
Higginbotham, Edward J.Aff1, Aff2, Aff5
MacDonald, Jeffrey R.
Trost, BrettAff1, Aff2
Chan, Ada J. S.Aff1, Aff2, Aff5
Walker, Susan
Lamoureux, Sylvia
Heung, Tracy
Mojarad, Bahareh A.
Kellam, Barbara
Paton, Tara
Faheem, MuhammadAff1, Aff2
Miron, KarinAff1, Aff2
Lu, Chao
Wang, Ting
Samler, Kozue
Wang, Xiaolin
Costain, GregoryAff7, Aff8
Hoang, NyAff2, Aff5, Aff9
Pellecchia, Giovanna
Wei, John
Patel, Rohan V.
Thiruvahindrapuram, Bhooma
Roifman, MaianAff7, Aff10, Aff11
Merico, DanieleAff1, Aff12
Goodale, Tara
Drmic, Irene
Speevak, Marsha
Howe, Jennifer L.
Yuen, Ryan K. C.Aff1, Aff2
Buchanan, Janet A.
Vorstman, Jacob A. S.Aff15, Aff16
Marshall, Christian R.Aff1, Aff4, Aff17
Wintle, Richard F.
Rosenberg, David R.Aff18, Aff19
Hanna, Gregory L.
Woodbury-Smith, MarcAff1, Aff21
Cytrynbaum, CherylAff2, Aff5, Aff7, Aff22
Zwaigenbaum, Lonnie
Elsabbagh, Mayada
Flanagan, Janine
Fernandez, Bridget A.
Carter, Melissa T.
Szatmari, PeterAff15, Aff27, Aff28
Roberts, Wendy
Lerch, JasonAff29, Aff30
Liu, Xudong
Nicolson, RobAff32, Aff33
Georgiades, Stelios
Weksberg, RosannaAff2, Aff7, Aff5
Arnold, Paul D.Aff2, Aff35, Aff36
Bassett, Anne S.Aff6, Aff15, Aff37
Crosbie, JenniferAff3, Aff15
Schachar, RussellAff3, Aff15, Aff38
Stavropoulos, Dimitri J.
Anagnostou, Evdokia
Scherer, Stephen W.Aff1, Aff2, Aff5, Aff40
DB Label
Database : Springer Nature Journals
원문보기
OA (Springer)  OA (Nature)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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