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1 Ergebnisse
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The clinical and genetic spectrum of autosomal-recessive TO..:
Saffari, Afshin
;
Tajsharghi, Homa
;
Maroofian, Reza
Brain, 0006-8950, 2023, 146:8, s. 3273-3288. , 2023
Link:
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889
RT Journal T1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
UL https://suche.suub.uni-bremen.de/peid=base-ftskoevdehoeg:oai:DiVA.org:his-22889&Exemplar=1&LAN=DE A1 Saffari, Afshin A1 Tajsharghi, Homa A1 Maroofian, Reza PB Högskolan i Skövde, Institutionen för hälsovetenskaper; Högskolan i Skövde, Forskningsmiljön hälsa, hållbarhet och digitalisering; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Germany; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, UK YR 2023 K1 AMC5 K1 NDD K1 Torsin-1A K1 arthrogryposis multiplex congenita 5 K1 biallelic variation K1 Medical Genetics K1 Medicinsk genetik JF Brain, 0006-8950, 2023, 146:8, s. 3273-3288 LK http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889 DO http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889 SF ELIB - SuUB Bremen
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