593 results on '"Hes, Frederik"'
Search Results
2. Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers
3. A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements
4. Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
5. Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations
6. Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members
7. Cleavage-stage or blastocyst-stage embryo biopsy has no impact on growth and health in children up to 2 years of age
8. Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors
9. Impact of embryo vitrification on children’s health, including growth up to two years of age, in comparison with results following a fresh embryo transfer
10. Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.
11. Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
12. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
13. Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study
14. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
15. Abstract 11823: Are Disease-Specific Patient-Reported Outcomes Measures (PROMs) Used in Cardio Genetics? A Review
16. A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements
17. Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
18. Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2
19. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
20. Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis
21. Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers
22. RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing
23. Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer
24. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
25. Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations
26. Supplementary Table 1 from Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort
27. Supplementary Figure Legends 1-2 from Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases
28. Supplementary Table 1 from Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases
29. Supplementary Figure 2 from Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases
30. Supplementary Figure 1 from Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases
31. Supplementary Figures 1 - 3 from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
32. Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1
33. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
34. Kanker in de familie: wanneer is verder onderzoek geïndiceerd?
35. A systematic review and evidence assessment of monogenic gene–disease relationships in human female infertility and differences in sex development
36. Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members
37. Are Disease-Specific Patient-Reported Outcomes Measures (PROMs) Used in Cardio Genetics? A Review
38. APCmosaicism, not always isolated: two first-degree relatives with apparently distinctAPCmosaicism
39. Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations, TP53 and microsatellite instability in endometrial cancer
40. Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
41. O-046 Reproductive prospects for ICSI children
42. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
43. High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations
44. Snellere diagnose bij zeldzame ziekten? Volg uw buikgevoel
45. Compliance with periodic surveillance for Von-Hippel-Lindau disease
46. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
47. MUTYH-associated polyposis (MAP)
48. Magnetic Resonance Imaging Surveillance Detects Early-Stage Pancreatic Cancer in Carriers of a p16-Leiden Mutation
49. Exploring pharmacogenomics: re-using available mendeliome data and determining patient perspectives
50. Phenotype of SDHB mutation carriers in the Netherlands
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