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1 Ergebnisse
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Mutations in PTRH2 cause novel infantile‐onset multisystem ..:
Hu, Hao
;
Matter, Michelle L.
;
Issa‐Jahns, Lina
...
Annals of Clinical and Translational Neurology. 1 (2014) 12 - p. 1024-1035 , 2014
Link:
https://doi.org/10.1002/acn3.149
RT Journal T1 <Title>Mutations in PTRH2 cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_acn3.149&Exemplar=1&LAN=DE A1 Hu, Hao A1 Matter, Michelle L. A1 Issa‐Jahns, Lina A1 Jijiwa, Mayumi A1 Kraemer, Nadine A1 Musante, Luciana A1 de la Vega, Michelle A1 Ninnemann, Olaf A1 Schindler, Detlev A1 Damatova, Natalia A1 Eirich, Katharina A1 Sifringer, Marco A1 Schrötter, Sandra A1 Eickholt, Britta J. A1 van den Heuvel, Lambert A1 Casamina, Chanel A1 Stoltenburg‐Didinger, Gisela A1 Ropers, Hans‐Hilger A1 Wienker, Thomas F. A1 Hübner, Christoph A1 Kaindl, Angela M. PB Wiley YR 2014 SN 2328-9503 SN 2328-9503 JF Annals of Clinical and Translational Neurology VO 1 IS 12 SP 1024 OP 1035 LK http://dx.doi.org/https://doi.org/10.1002/acn3.149 DO https://doi.org/10.1002/acn3.149 SF ELIB - SuUB Bremen
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