Lv2
108 积分 2025-04-11 加入
[Cartilage hair hypoplasia with severe combined immunodeficiency caused by a novel RMRP gene variant]
7天前
已完结
Insights Into DEPDC5 -Related Epilepsy From 586 People
3个月前
已完结
Fuchs endothelial corneal dystrophy: an updated review
3个月前
已完结
Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome
4个月前
已完结
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease
4个月前
已完结
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease
4个月前
已完结
Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II
4个月前
已完结
[Experts consensus on diagnosis and treatment of mucopolysaccharidosis type Ⅱ]
4个月前
已完结
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
5个月前
已完结
Presence of an IDS-Related Locus(IDS2) in Xq28 Complicates theMutational Analysis of HunterSyndrome
5个月前
已关闭
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