Lv31
260 积分 2024-09-03 加入
Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review
1小时前
已完结
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
25天前
已完结
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
2个月前
已关闭
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
2个月前
已完结
Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel
2个月前
已完结
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges
2个月前
已完结
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
2个月前
已完结
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