Wu, Ka Man
3471  Ergebnisse:
Personensuche X
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9

Loss-of-function variants in the schizophrenia risk gene SE..:

Wang, Shan ; Rhijn, Jon-Ruben van ; Akkouh, Ibrahim Ahmed...
Wang, Shan Rhijn, Jon-Ruben van Akkouh, Ibrahim Ahmed Kogo, Naoki Maas, Nadine Bleeck, Anna Ortiz, Irene Santisteban Lewerissa, Elly Wu, Ka Man Schoenmaker, Chantal Djurovic, Srdjan van Bokhoven, Hans Kleefstra, Tjitske Nadif Kasri, Nael Schubert, Dirk . Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway. Cell reports. 2022, 39(5).  , 2022
 
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-..:

Reijnders, Margot R. F ; Zachariadis, Vasilios ; Latour, Brooke...
https://research.rug.nl/en/publications/f746061b-82b8-4755-a281-96d721ec5305.  , 2016
 
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13

De Novo Loss-of-Function Mutations in USP9X Cause a Female-..:

Reijnders, Margot R. F ; Zachariadis, Vasilios ; Latour, Brooke...
Reijnders , M R F , Zachariadis , V , Latour , B , Jolly , L , Mancini , G M , Pfundt , R , Wu , K M , van Ravenswaaij-Arts , C M A , Veenstra-Knol , H E , Anderlid , B-M M , Wood , S A , Cheung , S W , Barnicoat , A , Probst , F , Magoulas , P , Brooks , A S , Malmgren , H , Harila-Saari , A , Marcelis , C M , Vreeburg , M , Hobson , E , Sutton , V R , Stark , Z , Vogt , J , Cooper , N , Lim , J Y , Price , S , Lai , A H M , Domingo , D , Reversade , B , Gecz , J , Gilissen , C , Brunner , H G , Kini , U , Roepman , R , Nordgren , A & Kleefstra , T 2016 , ' De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations ' , American Journal of Human Genetics , vol. 98 , no. 2 , pp. 373-381 . https://doi.org/10.1016/j.ajhg.2015.12.015.  , 2016
 
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