Lv1
70 积分 2024-11-27 加入
The search for a genetic defect in Polish patients with chronic granulomatous disease
14天前
已关闭
Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
1个月前
已完结
[Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes]
1个月前
已完结
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
3个月前
已关闭
698PDiagnostic challenge of distal myopathies – three rare cases from neuromuscular centre
3个月前
已关闭
Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype
4个月前
已完结
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
6个月前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
6个月前
已完结
先天性中枢性低通气综合征五例
7个月前
已完结
Landscape of Genomic Alterations in IDH Wild-Type Glioblastoma Identifies PI3K as a Favorable Prognostic Factor
7个月前
已完结