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42 积分 2023-09-13 加入
Gene mutations impede oocyte maturation, fertilization, and early embryonic development
7天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
7天前
已完结
A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria
9天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
13天前
已完结
Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients
13天前
已完结
FSIP2 plays a role in the acrosome development during spermiogenesis
15天前
已完结
Erythrokeratodermia Variabilis et Progressiva With Compound Heterozygous ABCA12 Variants
16天前
已完结
The Malmö International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A
17天前
已关闭
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
17天前
已完结