Lv1
70 积分 2021-12-20 加入
Ultrarare Muscular Dystrophy Mimics Facioscapulohumeral Muscular Dystrophy
3天前
已完结
DEGS1-related leukodystrophy: a clinical report and review of literature
3天前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
3天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
4天前
已关闭
EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
5天前
已完结
Clinical and molecular assessment of a spastic ataxia 4 (SPAX4) patient with a novel variant in the MTPAP gene, and a systematic review
6天前
已关闭
Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease
6天前
已完结
Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations
10天前
已关闭
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
11天前
已关闭
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