22 results on '"Sijmons Rolf"'
Search Results
2. Is HLA type a possible cancer risk modifier in Lynch syndrome?
3. A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound
4. Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations
5. Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At‐Risk Relatives
6. Do microsatellite instability profiles really differ between colorectal and endometrial tumors?
7. Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients
8. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome
9. PMS2 involvement in patients suspected of Lynch syndrome
10. Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome
11. A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships
12. The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study
13. Colorectal cancer and the CHEK2 1100delC mutation
14. Medullary Thyroid Cancer in a Patient with Hirschsprung Disease with a C609Y Germline RET‐mutation
15. Syndromic aspects of testicular carcinoma
16. Testicular carcinoma and HLA Class II genes
17. MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer
18. Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer
19. Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]
20. Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction
21. A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships.
22. Syndromic aspects of testicular carcinoma.
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