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1 Ergebnisse
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Recessive mutations in ATP8A2 cause severe hypotonia, cogni..:
Hugh J. McMillan
;
Aida Telegrafi
;
Amanda Singleton
...
http://link.springer.com/article/10.1186/s13023-018-0825-3. , 2018
Link:
https://doi.org/10.1186/s13023-018-0825-3
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-ftdoajarticles:oai:doaj.org_article:fe013e7e4ed249f6a19b18adfd360c6a&Exemplar=1&LAN=DE A1 Hugh J. McMillan A1 Aida Telegrafi A1 Amanda Singleton A1 Megan T. Cho A1 Daniel Lelli A1 Francis C. Lynn A1 Julie Griffin A1 Alexander Asamoah A1 Tuula Rinne A1 Corrie E. Erasmus A1 David A. Koolen A1 Charlotte A. Haaxma A1 Boris Keren A1 Diane Doummar A1 Cyril Mignot A1 Islay Thompson A1 Lea Velsher A1 Mohammadreza Dehghani A1 Mohammad Yahya Vahidi Mehrjardi A1 Reza Maroofian A1 Michel Tchan A1 Cas Simons A1 John Christodoulou A1 Elena Martín-Hernández A1 Maria J. Guillen Sacoto A1 Lindsay B. Henderson A1 Heather McLaughlin A1 Laurie L. Molday A1 Robert S. Molday A1 Grace Yoon PB BMC YR 2018 K1 ATP8A2 K1 Phospholipid transfer protein K1 Optic atrophy K1 Chorea K1 Choreoathetosis K1 Dystonia K1 Medicine K1 R JF http://link.springer.com/article/10.1186/s13023-018-0825-3 LK http://dx.doi.org/https://doi.org/10.1186/s13023-018-0825-3 DO https://doi.org/10.1186/s13023-018-0825-3 SF ELIB - SuUB Bremen
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