Lv1
46 积分 2025-02-28 加入
Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing
1天前
已完结
A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin
1天前
已完结
Identification de variants génétiques impliqués dans le syndrome de Susac par Whole Exome Sequencing
1天前
求助中
A compound heterozygote for hepatic lipase gene mutations Leu334–>Phe and Thr383–>Met: correlation between hepatic lipase activity and phenotypic expression
2天前
已完结
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
4天前
已完结
Genotype‐Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia
4天前
已完结
Ceruloplasmin gene variants are associated with hyperferritinemia and increased liver iron in patients with NAFLD
5天前
已关闭
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic
5天前
已关闭
Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling
6天前
已完结
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