Lv31
248 积分 2024-10-15 加入
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in theRB1 gene
2天前
已完结
Ela2 Mutations and Clinical Manifestations in Familial Congenital Neutropenia
24天前
已完结
Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis
1个月前
已完结
An institutional review of genomic sequencing in pediatric solid tumors
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
3个月前
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
3个月前
已完结
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
4个月前
已完结
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
4个月前
已完结
Two siblings with familial neuroblastoma with distinct clinical phenotypes harboring an ALK germline mutation
4个月前
已完结
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
4个月前
已完结
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