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J

John R. Younce

University of North Carolina
H指数:9
被引数:321

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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3中的功能丧失变体导致综合征性神经发育障碍

ANNALS OF NEUROLOGY
IF7.7
2024-09-202
PRE
Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun

研究方向

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J
Joel S. Perlmutter
H 指数:83论文数:599被引数:2.7万
S
Scott A. Norris
H 指数:22论文数:81被引数:2,218
M
Mwiza Ushe
H 指数:12论文数:51被引数:673
M
Meghan C. Campbell
H 指数:34论文数:170被引数:3,456
A
Albert A. Davis
H 指数:29论文数:85被引数:4,597
W
W. R. Wayne Martin
H 指数:57论文数:233被引数:1.2万
S
Samer D. Tabbal
H 指数:29论文数:79被引数:3,013
T
Tamara Hershey
H 指数:60论文数:258被引数:1.1万
R
Robert Jech
H 指数:43论文数:377被引数:7,510
E
Evan E. Eichler
H 指数:191论文数:878被引数:20.8万