Lv12
98 积分 2024-11-14 加入
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
3小时前
已完结
A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
4小时前
已关闭
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study
1天前
已完结
Syndromes de Pendred et surdités apparentées: une même entité?
10天前
已关闭
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
10天前
已完结
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation
11天前
已关闭
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
14天前
已完结
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia
17天前
已完结
Exome sequencing of FAP-like individuals identifies both known and novel causative genes
18天前
已完结
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study
18天前
已完结
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