Lv1
60 积分 2024-11-27 加入
Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
20天前
已完结
[Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes]
24天前
已完结
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
2个月前
已关闭
698PDiagnostic challenge of distal myopathies – three rare cases from neuromuscular centre
2个月前
已关闭
Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype
3个月前
已完结
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
5个月前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
5个月前
已完结
先天性中枢性低通气综合征五例
6个月前
已完结
Landscape of Genomic Alterations in IDH Wild-Type Glioblastoma Identifies PI3K as a Favorable Prognostic Factor
6个月前
已完结
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
6个月前
已完结
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