229 results on '"Chitty, Lyn S."'
Search Results
2. Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals
3. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
4. An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol
5. Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study
6. Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project
7. Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
8. Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
9. Update on the use of exome sequencing in the diagnosis of fetal abnormalities
10. Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
11. Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta
12. Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study
13. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
14. Benefits for children with suspected cancer from routine whole-genome sequencing
15. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally
16. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]
17. Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy
18. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally.
19. Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study
20. Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study
21. SCIENCE, MEDICINE, AND THE FUTURE: Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing
22. Fetal Nuchal Translucency Scan And Early Prenatal Diagnosis Of Chromosomal Abnormalities By Rapid Aneuploidy Screening: Observational Study
23. Will the introduction of non-invasive prenatal testing for Downʼs syndrome undermine informed choice?
24. Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
25. RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy
26. Continuing With Pregnancy After A Diagnosis Of Lethal Abnormality: Experience Of Five Couples And Recommendations For Management
27. Cell-Free DNA in Pediatric Solid Organ Transplantation Using a New Detection Method of Separating Donor-Derived from Recipient Cell-Free DNA
28. Development and mixed-methods evaluation of an online animation for young people about genome sequencing
29. Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications
30. Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier
31. Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project
32. Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing
33. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
34. Abnormal folate metabolism in foetuses affected by neural tube defects
35. Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome
36. Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study
37. Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS
38. Post mortem magnetic resonance imaging in the fetus, infant and child: A comparative study with conventional autopsy (MaRIAS Protocol)
39. An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family
40. Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
41. Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.
42. “We might get a lot more families who will agree”: Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy
43. Next-generation sequencing and the impact on prenatal diagnosis
44. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
45. Effectiveness Of Routine Ultrasonography In Detecting Fetal Structural Abnormalities In A Low Risk Population
46. Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening
47. Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers
48. Emerging Considerations for Noninvasive Prenatal Testing
49. Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study
50. Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation
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