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Publication date
2017 Dec
Authors
Maas, RR Iwanicka-Pronicka, K Ucar, SK Alhaddad, B AlSayed, M Al-Owain, MA Al-Zaidan, HI Balasubramaniam, S Baric, I Bubshait, DK Burlina, A Christodoulou, J Chung, WK Colombo, R Darin, N Freisinger, P Silva, MTG Grunewald, S Haack, TB van Hasselt, PM Hikmat, O Horster, F Isohanni, P Ramzan, K Kovacs-Nagy, R Krumina, Z Martin-Hernandez, E Mayr, JA McClean, P De Meirleir, L Naess, K Ngu, LH Pajdowska, M Rahman, S Riordan, G Riley, L Roeben, B Rutsch, F Santer, R Schiff, M Seders, M Sequeira, S Sperl, W Staufner, C Synofzik, M Taylor, RW Trubicka, J Tsiakas, K Unal, O Wassmer, E Wedatilake, Y Wolff, T Prokisch, H Morava, E Pronicka, E Wevers, RA de Brouwer, AP Wortmann, SB
Pubmed ID
29205472
Journal
Annals of neurology
Doctype
Article
KI Connection
Låg
Mesh SV
Aminosyrasekvens Barn Dövblindhet Förskolebarn Intellektuell funktionsnedsättning Karboxylesterhydrolaser Kohortstudier Kvinnlig Manlig Mutation Människa Nyfödda Onormal muskelspänning Optikusatrofi Sjukdomsförlopp Spädbarn Unga vuxna Ungdomar Vuxna
Mesh EN
Amino Acid Sequence Carboxylic Ester Hydrolases Cohort Studies Deaf-Blind Disorders Disease Progression Dystonia Intellectual Disability Mutation Optic Atrophy
First date
2017-12-31T10:16:08.347Z