Lv41
740 积分 2025-05-09 加入
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
3小时前
已完结
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
4天前
已完结
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
6天前
已完结
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
6天前
已完结
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis
6天前
已完结
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency
8天前
已完结
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency
8天前
已完结
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis
8天前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
10天前
已完结
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia
10天前
已完结
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