Lv1
30 积分 2021-05-22 加入
Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseases
19天前
已完结
[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)]
26天前
已完结
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants
1个月前
已完结
De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsy
5个月前
已完结
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies
5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
5个月前
已完结
Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis
5个月前
已完结
Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL
8个月前
已完结
Mutations in theCOL4A4 and COL4A3 Genes Cause Familial Benign Hematuria
8个月前
已关闭
Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients
8个月前
已完结
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