Lv21
156 积分 2023-01-05 加入
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
9分钟前
已关闭
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
2小时前
求助中
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
2小时前
已完结
Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up
6天前
已关闭
Phenotypic variability associated with 14 splice-site mutations in theNF2 Gene
10天前
已完结
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
12天前
已完结
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
12天前
已完结
A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome
17天前
已完结
Genetic screening in patients with ovarian dysfunction
17天前
已完结
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome
18天前
已完结
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