426 results on '"Parker, Michael J."'
Search Results
2. A Large Language Model Approach to Educational Survey Feedback Analysis
3. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
5. Online Courses Provide Robust Learning Gains and Improve Learner Confidence in the Foundational Biomedical Sciences
6. Is anybody watching: A multi-factor motivational framework for educational video engagement
7. Science in the time of COVID-19: Reflections on the UK Events Research Programme
8. Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
9. A procalcitonin-based algorithm to guide antibiotic use in patients with acute pancreatitis (PROCAP): a single-centre, patient-blinded, randomised controlled trial
10. Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues
11. BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
12. Getting rights right: implementing ‘Martha’s Rule’
13. Ethical issues in genetics and infectious diseases research: An interdisciplinary expert review
14. Ethical issues in Nipah virus control and research: addressing a neglected disease
15. Ethics of instantaneous contact tracing using mobile phone apps in the control of the COVID-19 pandemic
16. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
17. Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders
18. Quantifying the contribution of recessive coding variation to developmental disorders
19. Setting up an Office Allergy Practice: Current Recommendations for Sterility and Supervision
20. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
21. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
22. De novo and biallelic DEAF1 variants cause a phenotypic spectrum
23. Cardiopulmonary exercise testing in the evaluation of liver disease in adults who have had the Fontan operation
24. International network of cancer genome projects
25. International network of cancer genome projects.
26. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
27. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
28. Ethical issues in Nipah virus control and research: addressing a neglected disease
29. Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland
30. Dual diagnosis causing severe phenotype in a patient with Angelman syndrome
31. Twenty-four hour infusion of human recombinant activated protein C (Xigris) early in severe acute pancreatitis: The XIG-AP 1 trial
32. PROCalcitonin-based algorithm for antibiotic use in Acute Pancreatitis (PROCAP): study protocol for a randomised controlled trial
33. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
34. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
35. Optimising diagnostic yield in highly penetrant genomic disease
36. Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries
37. FOXP1-related intellectual disability syndrome: a recognisable entity
38. Work-Up and Outcome of Hepatic Resection for Peri-Hilar Cholangiocarcinoma (PH-CCA) without Staging Laparoscopy
39. The genetic assessment of looked after children: common reasons for referral and recent advances
40. Moral and scientific boundaries: research ethics on the Thai—Burma border
41. Novel Pump Control Technology Accelerates Drug Delivery Onset in a Model of Pediatric Drug Infusion
42. Prevalence and architecture of de novo mutations in developmental disorders
43. Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders
44. Initiation of an Emulsion Microinfusion: Flow Direction Influences Delivery Onset Rate
45. Further delineation of phenotypic spectrum ofSCN2A‐related disorder
46. Rising Paco2 in the ICU: Using a Physiologic Approach to Avoid Cognitive Biases
47. Maternal obesity and baseline vitamin D insufficiency alter the response to vitamin D supplementation: a double-blind, randomized trial in pregnant women
48. Getting Ethics Into Practice
49. Getting Ethics Into Practice: Clinicians Need To Be Able To Analyse And Justify Their Day To Day Value Judgments
50. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
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