Lv51
1297 积分 2022-05-11 加入
Microvillar enzyme analysis in amniotic fluid and the prenatal diagnosis of cystic fibrosis
7小时前
已完结
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
7小时前
已完结
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
23天前
已完结
Compound heterozygous PROC mutations cause lipedema in humans
29天前
已完结
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study
3个月前
已完结
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
3个月前
已完结
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
3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
3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
3个月前
已完结
The role of pathogenic TCF12 variants in children with coronal craniosynostosis—a systematic review with addition of two novel cases
4个月前
已完结
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