234 results on '"de Die-Smulders, Christine E."'
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2. How Do Partners Make Pregnancy-Related Decisions? Understanding the Decision-Making Process of Couples: A Scoping Review
3. Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
4. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making
5. Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations
6. Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience
7. Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach
8. The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study
9. Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers
10. Selecting the Right Embryo in Mitochondrial Disorders
11. The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study
12. The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study
13. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
14. Assisted Reproductive Care for PGD Patients
15. Reproductive options and genetic testing for patients with an inherited cardiac disease
16. The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study
17. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
18. Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices
19. De novo mtDNA point mutations are common and have a low recurrence risk
20. Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors
21. Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection
22. Author response for 'Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease'
23. Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease
24. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects
25. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)
26. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making
27. Assisted Reproductive Care for PGD Patients
28. PLS3 Mutations in X-Linked Osteoporosis with Fractures
29. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
30. Myotonic Dystrophy Type 1
31. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
32. Peripheral neuropathy in myotonic dystrophy type 1
33. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making
34. Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
35. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
36. Preimplantation genetic testing for monogenic kidney disease
37. Reply to Oliver W Quarrell et al.: “Letter in response to Tibben et al., Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners”
38. Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners
39. Paternal transmission of congenital myotonic dystrophy
40. Reply to Oliver W Quarrell et al.: 'Letter in response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners'
41. Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners
42. Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making
43. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome
44. Mutation-specific effects in germline transmission of pathogenic mtDNA variants
45. The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study
46. Reply to Oliver W. Quarrell et al.: Letter in response to Tibben et al., Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners
47. Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision‐making.
48. BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD
49. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
50. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
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