Lv3
218 积分 2025-01-14 加入
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
11小时前
待确认
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
1天前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
1天前
已完结
Non-lethal congenital hypotonia due to glycogen storage disease type IV
15天前
已完结
[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II]
26天前
已完结
Frontotemporal Dementia and the Sagging Brain
1个月前
已完结
Familial Dementia, Parkinsonism, Seizures and Spastic Paraparesis Associated with the Novel Y288H Presenilin-1 Mutation (PD5.008)
1个月前
已关闭
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome causing COL3A1 variants
1个月前
已完结
Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review
1个月前
已完结
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