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1 Ergebnisse
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ALG13 X‐linked intellectual disability: New variants, glyco..:
Alsharhan, Hind
;
He, Miao
;
Edmondson, Andrew C.
...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 1001-1012 , 2021
Link:
https://doi.org/10.1002/jimd.12378
RT Journal T1 <Title>ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12378&Exemplar=1&LAN=DE A1 Alsharhan, Hind A1 He, Miao A1 Edmondson, Andrew C. A1 Daniel, Earnest J. P. A1 Chen, Jie A1 Donald, Tyhiesia A1 Bakhtiari, Somayeh A1 Amor, David J. A1 Jones, Elizabeth A. A1 Vassallo, Grace A1 Vincent, Marie A1 Cogné, Benjamin A1 Deb, Wallid A1 Werners, Arend H. A1 Jin, Sheng C. A1 Bilguvar, Kaya A1 Christodoulou, John A1 Webster, Richard I. A1 Yearwood, Katherine R. A1 Ng, Bobby G. A1 Freeze, Hudson H. A1 Kruer, Michael C. A1 Li, Dong A1 Raymond, Kimiyo M. A1 Bhoj, Elizabeth J. A1 Sobering, Andrew K. PB Wiley YR 2021 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 44 IS 4 SP 1001 OP 1012 LK http://dx.doi.org/https://doi.org/10.1002/jimd.12378 DO https://doi.org/10.1002/jimd.12378 SF ELIB - SuUB Bremen
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