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1 Ergebnisse
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De novo loss-of-function KCNMA1 variants are associated wit..:
Liang, Lina
;
Li, Xia
;
Moutton, Sébastien
...
Human Molecular Genetics. 28 (2019) 17 - p. 2937-2951 , 2019
Link:
https://doi.org/10.1093/hmg/ddz117
RT Journal T1
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddz117&Exemplar=1&LAN=DE A1 Liang, Lina A1 Li, Xia A1 Moutton, Sébastien A1 Schrier Vergano, Samantha A A1 Cogné, Benjamin A1 Saint-Martin, Anne A1 Hurst, Anna C E A1 Hu, Yushuang A1 Bodamer, Olaf A1 Thevenon, Julien A1 Hung, Christina Y A1 Isidor, Bertrand A1 Gerard, Bénédicte A1 Rega, Adelaide A1 Nambot, Sophie A1 Lehalle, Daphné A1 Duffourd, Yannis A1 Thauvin-Robinet, Christel A1 Faivre, Laurence A1 Bézieau, Stéphane A1 Dure, Leon S A1 Helbling, Daniel C A1 Bick, David A1 Xu, Chengqi A1 Chen, Qiuyun A1 Mancini, Grazia M S A1 Vitobello, Antonio A1 Wang, Qing Kenneth PB Oxford University Press (OUP) YR 2019 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 28 IS 17 SP 2937 OP 2951 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddz117 DO https://doi.org/10.1093/hmg/ddz117 SF ELIB - SuUB Bremen
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