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40 积分 2024-11-23 加入
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
2天前
已完结
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
2天前
已完结
Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5‐related disorders
3天前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
6天前
已完结
Monogenic variants in dystonia: an exome-wide sequencing study
7天前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
7天前
已完结
Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse
9天前
已完结
HDR: A Novel Mutation in GATA-3 with Variable Expressivity in an Affected Family
10天前
已关闭
A Novel Mutation in KVLQT1 Is the Molecular Basis of Inherited Long QT Syndrome in a Near-Drowning Patient's Family
11天前
已关闭
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