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46. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Guillen Sacoto MJ; Tchasovnikarova IA; Torti E; Forster C; Andrew EH; Anselm I; Baranano KW; Briere LC; Cohen JS; Craigen WJ; Cytrynbaum C; Ekhilevitch N; Elrick MJ; Fatemi A; Fraser JL; Gallagher RC; Guerin A; Haynes D; High FA; Inglese CN; Kiss C; Koenig MK; Krier J; Lindstrom K; Marble M; Meddaugh H; Moran ES; Morel CF; Mu W; Muller EA; Nance J; Natowicz MR; Numis AL; Ostrem B; Pappas J; Stafstrom CE; Streff H; Sweetser DA; Szybowska M; ; Walker MA; Wang W; Weiss K; Weksberg R; Wheeler PG; Yoon G; Kingston RE; Juusola J Am J Hum Genet; 2020 Aug; 107(2):352-363. PubMed ID: 32693025 [TBL] [Abstract][Full Text] [Related]
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49. Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene. Ammar M; Tabebi M; Sfaihi L; Alila-Fersi O; Maalej M; Felhi R; Chabchoub I; Keskes L; Hachicha M; Fakhfakh F; Mkaouar-Rebai E Biochem Biophys Res Commun; 2016 Jun; 474(4):702-708. PubMed ID: 27155156 [TBL] [Abstract][Full Text] [Related]
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