Lv1
50 积分 2023-01-30 加入
[Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type Ⅲ]
1天前
求助中
Novel mutations in the USH2A gene in a family affected with Usher syndrome type 2
3天前
已完结
Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5‐related disorders
3天前
已完结
Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report
6天前
已完结
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]
7天前
已完结
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice
12天前
已完结
Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral‐facial‐digital syndrome type VI
13天前
已完结
Next-Generation Sequencing Gene Panels and “Solo” Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses
13天前
已完结
Analysis of genetic variants in five pedigrees affected with Dysferlinopathy
13天前
已完结
Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia
15天前
已完结
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