Lv3
300 积分 2024-09-03 加入
Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex® technique
4个月前
已完结
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies
5个月前
已完结
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations
5个月前
已完结
Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin
5个月前
已完结
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
5个月前
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)
6个月前
已完结
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
7个月前
已关闭
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
7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
7个月前
已完结
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges
7个月前
已完结
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