Lv11
50 积分 2025-12-27 加入
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant
4小时前
待确认
Newborn screening for isovaleric acidemia in Quanzhou, China
4天前
已完结
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia
4天前
已完结
Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV
15天前
已完结
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases
17天前
已完结
Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo
1个月前
已完结
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy
1个月前
已完结
Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population
1个月前
已完结
Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice site
1个月前
已完结
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
1个月前
已完结
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