407 results on '"Hofstra, Robert M. W."'
Search Results
2. Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2
3. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
4. Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
5. The long Filamin-A isoform is required for intestinal development and motility:implications for chronic intestinal pseudo-obstruction
6. The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction
7. TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction
8. KIAA1279 and Goldberg-Shprintzen Syndrome
9. EDNRB, EDN3, SOX10, and the Shah-Waardenburg Syndrome (WS4)
10. Do RET somatic mutations play a role in Hirschsprung disease?
11. Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human
12. The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
13. TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human
14. The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model
15. Screening for germline DND1 mutations in testicular cancer patients
16. New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers
17. TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset
18. Re: Role of the Oxidative DNA Damage Repair Gene OGG1 in Colorectal Tumorigenesis
19. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
20. A novel MSH2 germline mutation in a Druze HNPCC family
21. MUTYH and the mismatch repair system: partners in crime?
22. Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer
23. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes
24. The Human Leukocyte Antigen Region and Colorectal Cancer Risk
25. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
26. RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas
27. Mutation update on the CHD7 gene involved in CHARGE syndrome
28. Candidate driver genes in microsatellite-unstable colorectal cancer
29. Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?
30. Zebrafish: A Model Organism for Studying Enteric Nervous System Development and Disease
31. KIAA1279 and Goldberg–Shprintzen Syndrome
32. EDNRB, EDN3, and SOX10 and the Shah–Waardenburg Syndrome (WS4)
33. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?
34. The Effects of Four Different Tyrosine Kinase Inhibitors on Medullary and Papillary Thyroid Cancer Cells
35. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
36. Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
37. Inhibition of ROCK signaling pathway accelerates enteric neural crest cell‐based therapy after transplantation in a rat hypoganglionic model
38. Infantile hypertrophic pyloric stenosis in patients with esophageal atresia
39. Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A
40. RET as a Diagnostic and Therapeutic Target in Sporadic and Hereditary Endocrine Tumors
41. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
42. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
43. Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome
44. No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma
45. Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
46. Ordering of markers in the pericentromeric region of chromosome 10
47. Homozygous arginine-72 in wild type p53 and risk of cervical cancer
48. Constipation as the Presenting Symptom in De Novo Multiple Endocrine Neoplasia Type 2B
49. Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants
50. Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
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