Lv32
310 积分 2024-11-08 加入
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications
12天前
已完结
First case report of Penttinen syndrome from India
20天前
已完结
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
1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
1个月前
已关闭
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
1个月前
已完结
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
2个月前
已关闭
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
2个月前
已关闭
Copy number variations in SPAST and ATL1 are rare among Brazilians
2个月前
已完结
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
2个月前
已完结
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