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                             12 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset Cabet, Sara
2019
62 10 p.
artikel
2 Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases Isik, Esra
2019
62 10 p.
artikel
3 Congenital Sodium Diarrhea by mutation of the SLC9A3 gene Dimitrov, Georges
2019
62 10 p.
artikel
4 Early-onset stroke in two siblings with Neurofibromatosis type 1 Rukavina, Katarina
2019
62 10 p.
artikel
5 Editorial Board 2019
62 10 p.
artikel
6 Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss Hofrichter, Michaela A.H.
2019
62 10 p.
artikel
7 Molecular genetic study of 59 Chinese Oculocutaneous albinism families Luo, Dan
2019
62 10 p.
artikel
8 Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review Wang, Chao
2019
62 10 p.
artikel
9 Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome Laterza, Domenico
2019
62 10 p.
artikel
10 Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives Houdayer, F.
2019
62 10 p.
artikel
11 The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis Ben-David, Yael
2019
62 10 p.
artikel
12 Why systematic literature reviews in Fabry disease should include all published evidence Elliott, Perry M.
2019
62 10 p.
artikel
                             12 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland
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