Lv22
180 积分 2025-07-22 加入
BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese
9小时前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
1个月前
已完结
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
1个月前
已完结
Somatic PKD2 Mutations in Individual Kidney and Liver Cysts Support a “Two-Hit” Model of Cystogenesis in Type 2 Autosomal Dominant Polycystic Kidney Disease
1个月前
已关闭
Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study
1个月前
已完结
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations
1个月前
已完结
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report
1个月前
已完结
Genetic analysis of LRRK2 in Parkinson's disease in Han Chinese population
1个月前
已完结
Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2个月前
已完结
Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
2个月前
已完结
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