Lv5
1307 积分 2022-05-11 加入
Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases
4天前
已完结
Microvillar enzyme analysis in amniotic fluid and the prenatal diagnosis of cystic fibrosis
1个月前
已完结
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
1个月前
已完结
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
2个月前
已完结
Compound heterozygous PROC mutations cause lipedema in humans
2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
4个月前
已完结
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
4个月前
已完结
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
4个月前
已完结
Proteomic phenotype of cerebral organoids derived from autism spectrum disorder patients reveal disrupted energy metabolism, cellular components, and biological processes
5个月前
已完结
Unraveling pathogenesis and potential biomarkers for autism spectrum disorder associated with HIF1A pathway based on machine learning and experiment validation
5个月前
已完结
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