Lv5
1600 积分 2023-07-23 加入
Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma
18小时前
待确认
P423: Incomplete penetrance associated with a familial loss of function NAA15 variant
7天前
已关闭
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis
10天前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
17天前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
21天前
已完结
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
22天前
已完结
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
22天前
已完结
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest
25天前
已完结
Autosomal Recessive ACTG2‐Related Visceral Myopathy in Brothers
27天前
已完结
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia
28天前
已完结
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