Lv2
142 积分 2022-01-19 加入
[Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis]
20天前
已关闭
Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
28天前
已完结
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
1个月前
已完结
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study
1个月前
已完结
Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly
1个月前
已关闭
[A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"]
3个月前
已完结
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
3个月前
已完结
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy
3个月前
已完结
X-Linked Hypophosphatemia Attributable to Pseudoexons of the PHEX Gene
3个月前
已关闭
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
3个月前
已完结
皖公网安备34019202002308
