263 results on '"McGaughran J"'
Search Results
2. Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract
3. Use of advanced echocardiographic modalities to discriminate preclinical HCM mutation carriers from non-carriers
4. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
5. Initial Findings and Reflections of the Australian Genomics Cardiovascular Disorders Flagship.
6. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
7. The Elusive Hearts Study: Seeking Genetic Diagnoses in Gene-elusive Cases of Rare Monogenic Cardiovascular Diseases
8. Use of Advanced Echocardiographic Modalities to Discriminate Preclinical HCM Mutation Carriers From Non-Carriers
9. Use of Advanced Echocardiographic Modalities to Discriminate Preclinical Hypertrophic Cardiomyopathy Mutation Carriers From Non-Carriers
10. A Basic Physician Trainee's Genetic Immersion Experience in Cardiac Genetics.
11. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
12. Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients
13. 588 Seek and You Shall Find: A Case Highlighting the Importance of Multisystem Assessment in Arrhythmogenic Cardiomyopathy
14. 591 The Australian Genetic Heart Disease Registry: 13 Years on
15. The future of clinical genetics
16. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
17. Synpolydactyly phenotypes correlate with size of expansions in HOXD 13 polyalanine tract
18. Hereditary pancreatitis in a family of Aboriginal descent
19. A rare case of a de novo dup(19q) associated with a mild phenotype
20. Malignant peripheral nerve sheath tumours in neurofibromatosis 1
21. Interstitial deletion of 3p22.2-p24.2: the first reported case
22. Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21
23. A clinical study of type 1 neurofibromatosis in north west England
24. Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective
25. Audiological abnormalities in the Klippel-Feil syndrome
26. Molecular diagnosis of spinal muscular atrophy
27. WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
28. Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen–Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT)
29. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
30. Malignant peripheral nerve sheath tumors in neurofibromatosis 1
31. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
32. Long QT Syndrome Associated With a Mutation in the β3 Subunit of the Cardiac Sodium Channel (SCN3B) Gene in Two Siblings
33. Confounder bias in sudden death risk stratification for hypertrophic cardiomyopathy
34. Dilated cardiomyopathy - three brothers and a BAG3 mutation
35. Queensland Cardiac Genetics Clinic
36. Genetic testing for monogenic cardiac disorders in minors: Review of all minors referred to a cardiac genetics service over a 5 year period
37. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
38. A clinical study of type 1 neurofibromatosis in north west England
39. Presence of an RYR2 Mutation is Associated with Sudden Cardiac Events at Presentation in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
40. The Australian Genetic Heart Disease Registry: The First Five Years
41. Incremental Utility of Cardiac Magnetic Resonance Imaging in Assessing Adult Hypertrophic Cardiomyopathy Mutation Carriers
42. 350 A retrospective study of cancer in Australian and New Zealand cystic fibrosis (CF) patients
43. The National Genetic Heart Disease Registry: An Update
44. Utility of Genetic Testing in Hypertrophic Cardiomyopathy in a Statewide Service
45. The Key Role of Family History in Predicting Genetic Testing Outcomes in Hypertrophic Cardiomyopathy
46. Genetic Testing for Inherited Heart Diseases: Longitudinal Impact on Health-Related Quality of Life
47. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
48. The Australian National Genetic Heart Disease Registry: An Update
49. Health Status of Cardiac Genetic Disease Patients and Their At-risk Relatives
50. A Cost-effectiveness Analysis of Genetic Testing in the Evaluation of Families with Hypertrophic Cardiomyopathy
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