Lv2
118 积分 2025-04-11 加入
Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome
20天前
已完结
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease
20天前
已完结
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease
26天前
已完结
Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II
29天前
已完结
[Experts consensus on diagnosis and treatment of mucopolysaccharidosis type Ⅱ]
29天前
已完结
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
1个月前
已完结
Presence of an IDS-Related Locus(IDS2) in Xq28 Complicates theMutational Analysis of HunterSyndrome
2个月前
已关闭
Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants
3个月前
已完结
A novel type 2N VWF gene mutation
3个月前
已完结
Von Willebrand’s Disease
3个月前
已完结
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