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Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant
21小时前
已完结
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
1天前
待确认
Atlas of the clinical genetics of human dilated cardiomyopathy
1天前
已完结
In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4
1天前
求助中
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
3天前
求助中
Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance
4天前
已完结
Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
4天前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
5天前
已完结
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
5天前
已完结
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)
8天前
已关闭
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