Lv4
408 积分 2023-05-09 加入
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
14小时前
已完结
Novel FIG4 mutations in Yunis–Varon syndrome
1个月前
已完结
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
4个月前
已完结
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual
5个月前
已完结
KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole
5个月前
已完结
Spectrum of Craniosynostosis Phenotypes Associated with Novel Mutations at the Fibroblast Growth Factor Receptor 2 Locus
6个月前
已完结
中国汉族家族性肥厚型心肌病肌球蛋白重链基因G823E突变分析
6个月前
已完结
Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene
6个月前
已完结
Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil
6个月前
已完结
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