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1 Ergebnisse
1
Recessive mutations in ATP8A2 cause severe hypotonia, cogni..:
McMillan, Hugh J
;
Telegrafi, Aida
;
Singleton, Amanda
... , 2018
Link:
http://hdl.handle.net/2429/66525
RT Journal T1
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
UL https://suche.suub.uni-bremen.de/peid=base-ftunivbritcolcir:oai:circle.library.ubc.ca:2429_66525&Exemplar=1&LAN=DE A1 McMillan, Hugh J A1 Telegrafi, Aida A1 Singleton, Amanda A1 Cho, Megan T A1 Lelli, Daniel A1 Lynn, Francis C A1 Griffin, Julie A1 Asamoah, Alexander A1 Rinne, Tuula A1 Erasmus, Corrie E A1 Koolen, David A A1 Haaxma, Charlotte A A1 Keren, Boris A1 Doummar, Diane A1 Mignot, Cyril A1 Thompson, Islay A1 Velsher, Lea A1 Dehghani, Mohammadreza A1 Vahidi Mehrjardi, Mohammad Y A1 Maroofian, Reza A1 Tchan, Michel A1 Simons, Cas A1 Christodoulou, John A1 Martín-Hernández, Elena A1 Guillen Sacoto, Maria J A1 Henderson, Lindsay B A1 McLaughlin, Heather A1 Molday, Laurie L A1 Molday, Robert S A1 Yoon, Grace PB BioMed Central YR 2018 K1 ATP8A2 K1 Phospholipid transfer protein K1 Optic atrophy K1 Chorea K1 Choreoathetosis K1 Dystonia K1 Developmental disabilities K1 Whole exome sequencing LK http://hdl.handle.net/2429/66525 DO http://hdl.handle.net/2429/66525 SF ELIB - SuUB Bremen
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