Lv2
192 积分 2021-07-23 加入
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
10小时前
待确认
Understanding the genetics of human infertility
1个月前
已完结
A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome
1个月前
已完结
A novel PLS1 c.981+1G>A variant causes autosomal‐dominant hereditary hearing loss in a family
1个月前
已完结
Mutations in PLS1 , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
2个月前
已完结
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss
2个月前
已完结
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants
2个月前
已完结
The Role of Genetic Testing for Short Stature Now and in the Future
3个月前
已完结
Targeting endometriosis
3个月前
已完结
Focusing on male infertility
3个月前
已完结
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