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0 积分 2023-02-28 加入
Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism
2天前
已完结
Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency
2天前
已完结
Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease
2天前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
6天前
已完结
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third
7天前
已完结
Actionable Genotypes and Their Association with Life Span in Iceland
14天前
已完结
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
21天前
已完结
COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India
23天前
已完结
COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India
24天前
已完结
Actionable Genotypes and Their Association with Life Span in Iceland
29天前
已完结
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