Lv1
30 积分 2021-05-22 加入
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
1个月前
已完结
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
2个月前
已完结
Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseases
4个月前
已完结
[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)]
4个月前
已完结
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants
5个月前
已完结
De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsy
9个月前
已完结
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies
9个月前
已完结
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
9个月前
已完结
Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis
9个月前
已完结
Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL
1年前
已完结
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