Search

Your search keyword '"Brown, Natasha"' showing total 413 results

Search Constraints

Start Over You searched for: Author "Brown, Natasha" Remove constraint Author: "Brown, Natasha"
413 results on '"Brown, Natasha"'

Search Results

1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

3. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

5. Contributors

6. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

9. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

11. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

13. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (vol 142, pg 2617, 2019)

14. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

16. Using Structured Writing Communities to Facilitate Undergraduate Research Writing

17. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

18. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

19. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

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

25. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

26. The Impact of Undermining Coparenting on the Mental and Physical Health Outcomes of Black Fathers: The Role of Depression and Restrictive Emotionality.

28. Endophenotyping social cognition in the broader autism phenotype.

29. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

30. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

31. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

33. 'Granta' Names 20 Best Young British Novelists

34. Genome Sequence of the Alkaline-Tolerant Cellulomonas sp. Strain FA1

35. Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.

36. Systematic Review—Type B Insulin Resistance With Isolated Hypoglycemia and Suppressed Insulin.

39. Improving Genetic Diagnostic Yield in a Large Cohort of Children with Rare Vascular Anomalies or PIK3CA-related overgrowth spectrum

40. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

42. Violence Victimization and Parenting among Black South African Mothers

48. De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype.

50. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Catalog

Books, media, physical & digital resources