Lv5
1600 积分 2023-07-23 加入
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
2个月前
已完结
Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children
2个月前
已完结
Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma
3个月前
已完结
P423: Incomplete penetrance associated with a familial loss of function NAA15 variant
3个月前
已关闭
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis
3个月前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
3个月前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
3个月前
已完结
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
3个月前
已完结
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
3个月前
已完结
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest
3个月前
已完结
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