Lv12
30 积分 2024-06-12 加入
[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]
1小时前
待确认
Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene
1天前
已完结
Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor
7天前
已完结
Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect
10天前
已完结
[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease]
2个月前
已关闭
Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis
2个月前
已关闭
Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities
2个月前
已完结
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
3个月前
已完结
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