Lv28
132 积分 2024-11-05 加入
A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings
1天前
已完结
Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study
4天前
已完结
Whole-exome Sequencing Reveals New Potential Susceptibility Genes for Japanese Familial Pancreatic Cancer
5天前
已完结
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
6天前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
15天前
已完结
Three novel point mutations in the dystrophin gene in DMD patients
22天前
已关闭
α Thalassaemia in two Spanish families
24天前
已完结
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases ( IRDs ) in a Cohort of Eastern Iranian Patients
25天前
已完结
Clinical exome sequencing findings in 1589 patients
26天前
已完结
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
1个月前
已完结
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