Lv5
1297 积分 2022-05-11 加入
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome
1个月前
已完结
Quantitative Assessment of Parental Somatic Mosaicism for Copy‐Number Variant (CNV) Deletions
1个月前
已完结
Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases
1个月前
已完结
Microvillar enzyme analysis in amniotic fluid and the prenatal diagnosis of cystic fibrosis
3个月前
已完结
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
3个月前
已完结
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
3个月前
已完结
Compound heterozygous PROC mutations cause lipedema in humans
4个月前
已完结
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study
6个月前
已完结
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
6个月前
已完结
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
6个月前
已完结
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