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1. Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

3. The impact of COVID-19 on oncology professionals – one year on: lessons learned from the ESMO Resilience Task Force survey series

4. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

5. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

6. Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray

7. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

8. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

9. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

10. Design and evaluation of a visual genomic explainer: a mixed-methods study.

11. Challenges in Care Provision for Children and Adolescents With Differences of Sex Development.

12. Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.

13. Formation of I 2 +III 2 supercomplex rescues respiratory chain defects.

14. Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review.

15. Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

16. The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

17. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

18. A Standardized Measurement and Valuation Scale of Genomic Utility for Policy Decisions: The GUV Scale.

20. Blurring the lines: an empirical examination of the interrelationships among acceptability, appropriateness, and feasibility.

21. Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.

22. A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

23. Genomic testing for differences of sex development: Practices and perceptions of clinicians.

24. Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.

25. A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.

26. Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.

27. Nationwide, Couple-Based Genetic Carrier Screening.

28. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

30. Analysis of public perceptions on the use of artificial intelligence in genomic medicine.

31. Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

32. HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

33. Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

34. Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.

36. 'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations.

37. An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.

38. Quantifying constraint in the human mitochondrial genome.

39. Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.

40. Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

41. A call to action to scale up research and clinical genomic data sharing.

42. Embedding Specialised Educators in Modalities for Continuing Medical Education. A Study of Effectiveness, and Health Care Practitioner and Educator Preferences.

43. A guide to gene-disease relationships in nephrology.

44. Case report: Partial regression of metastatic squamous cell carcinoma with altered azathioprine dosage after long-term use in renal transplant patient.

46. Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

47. ESMO Resilience Task Force recommendations to manage psychosocial risks, optimise well-being, and reduce burnout in oncology.

48. A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability.

49. Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates.

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