Lv1
80 积分 2023-08-28 加入
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
1个月前
已完结
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
1个月前
已完结
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
1个月前
已完结
Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network
1个月前
已关闭
Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria
1个月前
已完结
CSF1R-related Adult-onset Leukoencephalopathy
1个月前
已完结
Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family
3个月前
已关闭
A genomic survey of sarcomas on sun-exposed skin reveals distinctive candidate drivers and potentially targetable mutations
3个月前
已完结
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