16 results on '"Mensenkamp A."'
Search Results
2. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
3. NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report
4. TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort
5. The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
6. SNP association study in PMS2-associated Lynch syndrome
7. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
8. Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer
9. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
10. NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report
11. The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
12. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
13. ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
14. DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct
15. Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance
16. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
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