Lv21
110 积分 2024-06-12 加入
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency
2小时前
待确认
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
21天前
已完结
An integrative framework for clinical diagnosis and knowledge discovery from exome sequencing data
27天前
已完结
Congenital Hypogonadotropic Hypogonadism Caused by Prokineticin Receptor 2 Rare Sequence Variants: Molecular Genetics, Clinical Phenotypes and Therapeutic Outcomes From a Single‐center Cohort
27天前
已完结
Hepatic Dry Copper Weight in Pediatric Autoimmune Liver Disease
28天前
已完结
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease
1个月前
已完结
Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC)
1个月前
已关闭
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort
1个月前
已完结
Novel gene based therapies for inherited retinal dystrophies in pediatric patients
1个月前
已关闭
Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse
1个月前
已完结
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