Lv56
1530 积分 2022-10-27 加入
Evaluation of genotype–phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome
1天前
待确认
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
8天前
已完结
Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene
14天前
已完结
Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate
14天前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
14天前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
14天前
已完结
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
14天前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
21天前
已完结
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis
23天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
24天前
已关闭
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