Associated Papers
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
Abdel Ghaffar TY et al.
Bmc Pediatrics, 2011
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
Abdelghaffar TY et al.
Journal of Human Genetics, 2008
Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children.
Müller T et al.
Journal of Hepatology, 2007
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999
Select a paper to view details