Lv14
34 积分 2024-12-19 加入
Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella
1天前
待确认
Post-mortem genetic investigation in sudden cardiac death victims: complete exon sequencing of forty genes using next-generation sequencing
1天前
已完结
An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
2天前
已完结
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor
2天前
已完结
A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra
3天前
已完结
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
3天前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
18天前
已完结
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