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1 Ergebnisse
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Biallelic loss-of-function P4HTM gene variants cause hypoto..:
Rahikkala, Elisa
;
Myllykoski, Matti
;
Hinttala, Reetta
...
10.1038/s41436-019-0503-4. , 2019
Link:
http://hdl.handle.net/10138/306749
RT Journal T1
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_306749&Exemplar=1&LAN=DE A1 Rahikkala, Elisa A1 Myllykoski, Matti A1 Hinttala, Reetta A1 Vieira, Paivi A1 Nayebzadeh, Naemeh A1 Weiss, Simone A1 Plomp, Astrid S A1 Bittner, Reginald E A1 Kurki, Mitja I A1 Kuismin, Outi A1 Lewis, Andrea M A1 Väisänen, Marja-Leena A1 Kokkonen, Hannaleena A1 Westermann, Jonne A1 Bernert, Gunther A1 Tuominen, Hannu A1 Palotie, Aarno A1 Aaltonen, Lauri A1 Yang, Yaping A1 Potocki, Lorraine A1 Moilanen, Jukka A1 van Koningsbruggen, Silvana A1 Wang, Xia A1 Schmidt, Wolfgang M A1 Koivunen, Peppi A1 Uusimaa, Johanna PB Nature Publishing Group YR 2019 K1 P4HTM K1 exome sequencing K1 HIDEA syndrome K1 intellectual disability K1 hypoventilation K1 TRANSMEMBRANE PROLYL 4-HYDROXYLASE K1 PHD2 MUTATION K1 HYPOXIA K1 ERYTHROCYTOSIS K1 DEFECTS K1 ENZYMES K1 Biomedicine K1 Genetics K1 developmental biology K1 physiology JF 10.1038/s41436-019-0503-4 LK http://hdl.handle.net/10138/306749 DO http://hdl.handle.net/10138/306749 SF ELIB - SuUB Bremen
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