28 results on '"Heinimann K"'
Search Results
2. A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
3. Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients
4. Getting familiar with familial colon cancer
5. Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
6. Mismatch repair deficiency: a temozolomide resistance factor in medulloblastoma cell lines that is uncommon in primary medulloblastoma tumours
7. Is colorectal surveillance indicated in patients with PTEN mutations?
8. DNA fingerprinting of glioma cell lines and considerations on similarity measurements
9. Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test
10. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism
11. Neurogenetische Diagnostik
12. Diagnostic neurogénétique
13. MutSβ exceeds MutSα in dinucleotide loop repair
14. Prognostic and predictive value of TOPK stratified by KRAS and BRAF gene alterations in sporadic, hereditary and metastatic colorectal cancer patients
15. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
16. M.P.5.04 Evaluation of in-phase and out-of-phase and FISP MRI to quantify muscle fat content in OPMD
17. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
18. Cystic fibrosis and intrauterine death
19. Exclusion of an extracolonic disease modifier locus on chromosome 1p33–36 in a large Swiss familial adenomatous polyposis kindred
20. Genetische Untersuchungen während der Schwangerschaft
21. An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 Locus on 15q13–q14 Is Associated with Hereditary Mixed Polyposis Syndrome
22. Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC
23. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas
24. Kolorektale Polypen Multiple Polypen des Dick- und Mastdarms im Kindes- und Erwachsenenalter - Wann sind Gentests angezeigt?
25. Polypes colo-rectaux Polypes multiples du gros intestin et du rectum chez lenfant et ladulte: Quand un test génétique est-il indiqué?
26. Genetics of hereditary colon cancer — a basis for prevention?
27. Familiäres Kolorektalkarzinom und genetisches Screening
28. Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status
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