Lv1
28 积分 2024-08-15 加入
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
3天前
已完结
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
16天前
已完结
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
22天前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
22天前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
22天前
已完结
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes
22天前
已完结
Genetic Panel Reveals Coexisting Neuromuscular Disorders in Patients With Duchenne Muscular Dystrophy
1个月前
已关闭
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings
1个月前
已关闭
[Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis]
1个月前
已完结
SUGP2 p.(Arg639Gln) variant is involved in the pathogenesis of hemochromatosis via the CIRBP/BMPER signaling pathway
1个月前
已完结
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