Lv21
130 积分 2024-11-21 加入
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective
14天前
已完结
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
21天前
已完结
Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus
1个月前
已完结
[Postpartum fatal pulmonary embolism with F5 gene mutation: a case report]
1个月前
已完结
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges
1个月前
已关闭
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism
1个月前
已完结
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
1个月前
已完结
Insights into clinical phenotypes and treatment responses in a Small cohort of Taiwanese patients with SCN1A variants: A Preliminary study
9个月前
已完结
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
11个月前
已完结
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