Lv2
118 积分 2022-06-21 加入
Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy
1个月前
已完结
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM
1个月前
已关闭
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population
2个月前
已关闭
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI)
2个月前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
2个月前
已完结
A case of LSS‐associated congenital nuclear cataract with hypotrichosis and literature review
2个月前
已完结
PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
3个月前
已完结
A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria
4个月前
已完结
A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report
4个月前
已完结
Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature
5个月前
已完结
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