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80 积分 2022-01-19 加入
Six Different Point Mutations in Seven Danish Families with Symptomatic Protein C Deficiency
7天前
已完结
Heterogeneity and Low Detection Rate of RET Mutations in Hirschsprung Disease
29天前
已关闭
Clinical features and gene mutation analysis of patients with Alagille syndrome
1个月前
已完结
[Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis]
2个月前
已关闭
Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
2个月前
已完结
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
2个月前
已完结
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study
3个月前
已完结
Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly
3个月前
已关闭
[A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"]
4个月前
已完结
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
4个月前
已完结
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