Lv12
18 积分 2023-08-09 加入
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
1小时前
待确认
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
1小时前
待确认
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
23小时前
已完结
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis
17天前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
21天前
已完结
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect
21天前
已完结
von Willebrand factor variants in C3 glomerulopathy: A Chinese cohort study
24天前
已完结
[Analysis of Correlation of WAS Gene Mutations with Clinical Phenotype]
1个月前
已完结
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes
1个月前
已完结
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
1个月前
已完结
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