Lv41
672 积分 2024-06-13 加入
Genetic variants underlying developmental arrests in human preimplantation embryos
3小时前
已完结
Gene mutations impede oocyte maturation, fertilization, and early embryonic development
3小时前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
4小时前
已完结
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance
6天前
已完结
Structure and Functional Characterization of Human Histidine Triad Nucleotide-Binding Protein 1 Mutations Associated with Inherited Axonal Neuropathy with Neuromyotonia
7天前
已完结
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
7天前
已完结
Four novel GALC gene mutations in two Chinese patients with Krabbe disease
7天前
已完结
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients
8天前
已完结
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
8天前
已完结
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
8天前
已完结
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