253 results on '"Chitty, Lyn S."'
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2. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
3. 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
4. Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families
5. ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service
6. New ventures for Prenatal Diagnosis
7. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
8. Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals
9. Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use
10. Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
11. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
12. Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
13. Noninvasive Prenatal Diagnosis for Single-Gene Disorders
14. Diagnosis and Management of Fetal Skeletal Abnormalities
15. List of Contributors
16. Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies
17. Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis
18. Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches
19. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally
20. Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis
21. Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders
22. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service
23. Lessons learnt from prenatal exome sequencing
24. Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis
25. Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey
26. Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
27. Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study
28. Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study
29. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
30. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service
31. Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders
32. Noninvasive Prenatal Screening and Diagnosis Using Cell-free Fetal DNA
33. Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study
34. What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing
35. Non‐invasive prenatal testing 10 years on
36. Societal Aspects: Ethics
37. Developing Noninvasive Diagnosis for Single-Gene Disorders: The Role of Digital PCR
38. Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals
39. Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered
40. Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell‐Free DNA
41. A new decade, fond farewells and a new era for Prenatal Diagnosis
42. Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery
43. 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
44. The Role of Sonographic Phenotyping in Delivering an Efficient Noninvasive Prenatal Diagnosis Service for FGFR3-Related Skeletal Dysplasias
45. Congenital Lung Disease
46. Contributors
47. Fetal Skeletal Abnormalities
48. Contributors
49. CONTRIBUTORS
50. PRENATAL DIAGNOSIS OF FETAL RENAL ABNORMALITIES
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