130 results on '"Hofstra, R M W"'
Search Results
2. NDRG4, an early detection marker for colorectal cancer, is specifically expressed in enteric neurons
3. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N‐terminal Ig‐like domains
4. Fine mapping of the 9q31 Hirschsprung’s disease locus
5. Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies
6. Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia*
7. Prognostic significance of K-ras andTP53 mutations in the role of adjuvant chemotherapy on survival in patients with dukes C colon cancer
8. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
9. Medullary thyroid carcinoma and biomarkers: past, present and future
10. Absence of mutations in the RET gene in acute myeloid leukemia
11. Hirschsprung disease, associated syndromes and genetics: a review: J AMIEL for the International Consortium on Hirschsprung Disease
12. Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer
13. A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3
14. Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase protein expression on survival in adjuvantly treated stage III colon cancer patients
15. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
16. Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer
17. Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
18. Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
19. Reduced endothelin-3 expression in sporadic Hirschsprung disease
20. Three novel KCNA1 mutations in episodic ataxia type I families
21. A Hirschsprung disease locus at 22q11?
22. DOZ047.32: Infantile hypertrophic pyloric stenosis in patients with esophageal atresia: proposal for a causative seesaw model
23. Oncological implications of RET gene mutations in Hirschsprung's disease
24. Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
25. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains
26. Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.
27. Profylactische thyreoïdectomie bij kinderen die drager zijn van een mutatie van multipele endocriene neoplasie type 2: beschrijving van 20 casussen en aanbevelingen op grond van de literatuur
28. Amniocentesis is still the best option for advanced genomic testing in case of fetal malformations.
29. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
30. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?
31. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene
32. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
33. Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats
34. Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer
35. COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer
36. Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
37. Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations
38. Analysis of the RET,GDNF, EDN3, andEDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
39. Prognostic significance of K- ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with dukes C colon cancer
40. Clinical Definition of Hereditary Non-polyposis Colorectal Cancer: A Search for the Impossible?
41. Impact of Kras and Tp53 Mutations on Survival in Patients With Left- and Right-Sided Dukes' C Colon Cancer
42. MASA syndrome: ultrasonographic evidence in a male fetus
43. Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis
44. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
45. Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE
46. Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis
47. A Novel Point Mutation in the Intracellular Domain of the ret Protooncogene in a Family with Medullary Thyroid Carcinoma
48. Haplotype sharing test maps genes for familial cardiomyopathies.
49. Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
50. DOZ047.32: Infantile hypertrophic pyloric stenosis in patients with esophageal atresia: proposal for a causative seesaw model.
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