1,238 results on '"Delatycki, Martin B."'
Search Results
2. New and Emerging Drug and Gene Therapies for Friedreich Ataxia
3. The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
4. Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver
5. Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening
6. Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
7. Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia
8. The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia
9. Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study
10. Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
11. A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1
12. An Overview of Reproductive Carrier Screening Panels for Autosomal Recessive and/or X-Linked Conditions: How Much Do We Know?
13. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature
14. Longitudinal investigation of brain activation during motor tasks in Friedreich ataxia: 24-month data from IMAGE-FRDA
15. Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians.
16. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
17. Population Screening for Hereditary Haemochromatosis—Should It Be Carried Out, and If So, How?
18. Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia.
19. Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study
20. Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome
21. A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
22. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective
23. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
24. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype‐stratified cohort study of hemochromatosis in Australian women
25. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
26. Developing an Instrumented Measure of Upper Limb Function in Friedreich Ataxia
27. Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition
28. Sexual function, intimate relationships and Friedreich ataxia
29. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
30. Should genes for non‐syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
31. Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement.
32. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
33. Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants
34. Challenges facing repeat expansion identification, characterisation, and the pathway to discovery
35. Genetics and pediatric hospital admissions, 1985 to 2017
36. 'Is it better not to know certain things?' : views of women who have undergone non-invasive prenatal testing on its possible future applications
37. Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis
38. Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
39. Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
40. Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA
41. Genetic discrimination by Australian insurance companies: a survey of consumer experiences
42. HFE C282Y and H63D simple heterozygosity
43. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
44. Probing the multifactorial source of hand dysfunction in Friedreich ataxia
45. Preconception and antenatal carrier screening for genetic conditions: 'The critical role of general practitioners'
46. Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study
47. Free‐Water Imaging in Friedreich Ataxia Using Multi‐Compartment Models.
48. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
49. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
50. Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review
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