489 results on '"Mowat, David"'
Search Results
2. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
3. Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
4. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
5. The role of exome sequencing in childhood interstitial or diffuse lung disease
6. A longitudinal study of change in substance use from before to during the COVID-19 pandemic in young adults
7. Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome
8. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
9. Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
10. Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience
11. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
12. The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
13. Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency
14. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
15. Pathways to policy : Lessons learned in multisectoral collaboration for physical activity and built environment policy development from the Coalitions Linking Action and Science for Prevention (CLASP) initiative
16. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
17. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
18. Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
19. Surveillance de la santé : des besoins changeants, une fonction constante
20. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing
21. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
22. Producing More Relevant Evidence: Applying a Social Epidemiology Research Agenda to Public Health Practice
23. The diverse pleiotropic effects of spliceosomal protein PUF60 : A case series of Verheij syndrome
24. SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder
25. Additional file 1 of The role of exome sequencing in childhood interstitial or diffuse lung disease
26. Additional file 2 of The role of exome sequencing in childhood interstitial or diffuse lung disease
27. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
28. Intégrer la prise en compte des impacts sur la santé dans les processus d’approbation des plans d’aménagement du territoire: l’élaboration d’un cadre d’étude de base sur la santé
29. Creating an organizational culture for evidence-informed decision making
30. Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life
31. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
32. ZEB2 and Mowat-Wilson Syndrome
33. Building Community and Public Health Nursing Capacity: A Synthesis Report of the National Community Health Nursing Study
34. Renforcement de la capacité en soins infirmiers de santé communautaire et de santé publique: Rapport de synthèse de la "National Community Health Nursing Study"
35. Assessing Canadian Medical Students' Familiarity with and Interest in Pursuing a Career in Community Medicine
36. Développer la capacité d'application des connaissances en santé publique: Le rôle des centres nationaux de collaboration
37. Developing Knowledge Translation Capacity in Public Health: The Role of the National Collaborating Centres
38. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
39. Favoriser la prise de décision factuelle au Canada : Examen de la nécessité de créer un Centre de données de recherche et un Réseau de recherche sur la santé publique et des populations au Canada
40. Fostering Evidence-based Decision-making in Canada: Examining the Need for a Canadian Population and Public Health Evidence Centre and Research Network
41. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing
42. Sleep disturbance in Mowat–Wilson syndrome
43. Developing the Public Health Workforce in Canada: A Summary of Regional Workshops on Workforce Education and Training
44. A Randomized Trial of Two Public Health Nurse Follow-up Programs after Early Obstetrical Discharge: An Examination of Breastfeeding Rates, Maternal Confidence and Utilization and Costs of Health Services
45. The Influence of Prevalence and Policy on the Likelihood that a Physician will Offer HIV Screening in Pregnancy
46. Building Capacity in Evidence-based Public Health Practice
47. Clinically Responsive Genomic Analysis Pipelines
48. Health Surveillance: Changing Needs, Constant Function
49. A Population-level Analysis of Birth Weight Indices in Peel Region, Ontario: The Impact of Ethnic Diversity
50. The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome
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