Lv31
310 积分 2024-11-08 加入
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
3小时前
待确认
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications
1个月前
已完结
First case report of Penttinen syndrome from India
1个月前
已完结
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
2个月前
已完结
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
3个月前
已关闭
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
3个月前
已完结
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
3个月前
已关闭
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
3个月前
已关闭
Copy number variations in SPAST and ATL1 are rare among Brazilians
3个月前
已完结
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