Lv31
380 积分 2023-09-13 加入
[A novel GATA4 mutation leading to congenital ventricular septal defect]
6天前
已完结
[Prenatal diagnosis of a fetus with 5p15.33 microdeletion]
14天前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1个月前
已完结
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients
2个月前
已完结
Partial α‐sarcoglycan deficiency with retention of the dystrophin‐glycoprotein complex in a LGMD2D family
2个月前
已完结
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients
3个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
3个月前
已完结
[NECRC syndrome caused by ZMYM2 gene variation in 2 cases]
4个月前
已完结
Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort
5个月前
已完结
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