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88 积分 2025-04-11 加入
Insights Into DEPDC5 -Related Epilepsy From 586 People
1个月前
已完结
Fuchs endothelial corneal dystrophy: an updated review
1个月前
已完结
Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome
2个月前
已完结
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease
2个月前
已完结
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease
2个月前
已完结
Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II
3个月前
已完结
[Experts consensus on diagnosis and treatment of mucopolysaccharidosis type Ⅱ]
3个月前
已完结
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
3个月前
已完结
Presence of an IDS-Related Locus(IDS2) in Xq28 Complicates theMutational Analysis of HunterSyndrome
4个月前
已关闭
Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants
5个月前
已完结
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