학술논문
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Document Type
Article
Author
Polla, D.L.; Huffels, S.C.; van Bokhoven, H.; de Brouwer, A.P.M.; Bhoj, E.J.; Hill-Karfe, K.; Hakonarson, H.; Zackai, E.; Cuddapah, S.; Verheij, J.B.G.M.; Wassink-Ruiter, J.S.K.; Reis, A.; Gregor, A.; Zweier, C.; Deshpande, C.; Silfhout, A.T.V.-V.; Pfundt, R.; Bongers, E.M.H.F.; Leenders, E.K.S.M.; de Vries, B.B.A.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Stumpel, C.T.R.M.; Stegmann, A.P.A.; Wennekes, R.; Reardon, W.; Li, D.; Ragge, N.; Lynch, S.A.
Source
In: Genetics in Medicine . (Genetics in Medicine, April 2021, 23(4):645-652)
Subject
Language
English
ISSN
15300366
10983600
10983600