191 results on '"Vos, Yvonne J."'
Search Results
2. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
3. Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
4. The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension
5. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
6. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
7. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
8. PRRT2-related phenotypes in patients with a 16p11.2 deletion
9. Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
10. Abstract P391: Cellular Camp Nanoarchtecture-signaling Changes Cause Hypertension With Brachydactyly
11. SNP association study in PMS2-associated Lynch syndrome
12. Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
13. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
14. Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene
15. SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics
16. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
17. Abstract 18198: A Stepwise Approach Including Whole Exome Sequencing Targeting a Gene Panel for Paediatric Dilated Cardiomyopathy, Potentially Yields a Diagnosis in 50% of Patients
18. Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy
19. TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility
20. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
21. Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
22. Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
23. Case series, chemotherapy-induced cardiomyopathy: mind the family history!
24. Structural Variation of Chromosomes in Autism Spectrum Disorder
25. Screening for germline DND1 mutations in testicular cancer patients
26. Structural variation in chromosomes in autism spectrum disorder
27. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
28. Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic?
29. Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene
30. A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis
31. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
32. Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
33. An Updated and Upgraded L1CAMMutation Database
34. Nephrogenic Diabetes Insipidus in a Patient With L1 Syndrome: A New Report of a Contiguous Gene Deletion Syndrome Including L1CAM and AVPR2
35. A DGGE System for Comprehensive Mutation Screening of BRCA1 and BRCA2:: Application in a Dutch Cancer Clinic Setting
36. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
37. Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
38. A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
39. PRRT2-related phenotypes in patients with a 16p11.2 deletion
40. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
41. TAB2deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
42. A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients
43. Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy
44. Cancer Risks for PMS2-Associated Lynch Syndrome
45. Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis
46. Cancer Risks for PMS2-associated lynch syndrom
47. SNP association study in PMS2-associated Lynch syndrome
48. Cancer Risks for PMS2-associated lynch syndrom
49. CORRIGENDUM: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
50. SNP association study in PMS2-associated Lynch syndrome
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