224 results on '"Spruijt, Liesbeth"'
Search Results
2. Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer
3. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2
4. SNP association study in PMS2-associated Lynch syndrome
5. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
6. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
7. Founder mutations among the Dutch*
8. Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
9. High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
10. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
11. Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer
12. Neurofibromas in LZTR1 schwannomatosis
13. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
14. Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation
15. Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes
16. Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors
17. Exome sequencing identifies WDR35 variants involved in sensenbrenner syndrome
18. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects
19. Attitude towards pre-implantation genetic diagnosis for hereditary cancer
20. Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
21. Founder mutations among the Dutch*
22. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
23. A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
24. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy
25. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
26. TINF2 is a haploinsufficient tumor suppressor that limits telomere length
27. Author response: TINF2 is a haploinsufficient tumor suppressor that limits telomere length
28. A MELAS-Associated ND1 Mutation Causing Leber Hereditary Optic Neuropathy and Spastic Dystonia
29. TINF2 is a haploinsufficient tumor suppressor that limits telomere length
30. A Novel Mutation in the MSX2 Gene in a Family With Foramina Parietalia Permagna (FPP)
31. Influence of mutation type on clinical expression of leber hereditary optic neuropathy
32. The Otolaryngological Manifestations of Mitochondrial Disease and the Risk of Neurodegeneration With Infection
33. DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct
34. Role of germline aberrations affecting,andin gastric cancer susceptibility
35. The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect
36. Evaluation of yield and experiences of age‐related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
37. Cancer Risks for PMS2-Associated Lynch Syndrome
38. Cancer Risks for PMS2-associated lynch syndrom
39. SNP association study in PMS2-associated Lynch syndrome
40. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2
41. Cancer Risks for PMS2-associated lynch syndrom
42. Clinical aspects of SDHA-related pheochromocytoma and paraganglioma: A nationwide study
43. Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
44. CORRIGENDUM: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
45. Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
46. SNP association study in PMS2-associated Lynch syndrome
47. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
48. Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; A case-control study Medical Genetics
49. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
50. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
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