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40 积分 2024-09-24 加入
[Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome]
11小时前
已完结
[Mitochondrial liver disease caused by TRMU gene mutation]
7天前
已完结
Six novel mutations in the neurofibromatosis type 1 (NF1) gene
13天前
已完结
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
1个月前
已完结
Growth reference charts for children with hypochondroplasia
1个月前
已完结
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families
1个月前
已关闭
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
1个月前
已完结
Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1
1个月前
已完结
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy
1个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
1个月前
已完结
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