Lv2
168 积分 2024-10-15 加入
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
3天前
已完结
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation
5天前
已完结
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
11天前
已完结
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
15天前
已完结
Two siblings with familial neuroblastoma with distinct clinical phenotypes harboring an ALK germline mutation
15天前
已完结
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
17天前
已完结
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients
18天前
已完结
Two-hit model for the development of aldosterone-producing adenoma: supporting from two new cases
18天前
已完结
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I
23天前
已完结
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
24天前
已完结
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