Search

Your search keyword '"North, KN"' showing total 289 results

Search Constraints

Start Over You searched for: Author "North, KN" Remove constraint Author: "North, KN" Language english Remove constraint Language: english
289 results on '"North, KN"'

Search Results

1. Delineating the autistic phenotype in children with neurofibromatosis type 1

2. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

4. Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial.

5. Feasibility of a computerized method to measure quality of 'everyday' life in children with neuromuscular disorders.

6. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder.

11. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

13. Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.

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

15. Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study.

16. Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing.

17. Neuropsychological factors associated with performance on the rey-osterrieth complex figure test in children with neurofibromatosis type 1.

18. Understanding nonliteral language abilities in children with neurofibromatosis type 1.

19. Sensory Processing in Children and Adolescents with Neurofibromatosis Type 1.

20. Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.

21. Integrated multi-omics for rapid rare disease diagnosis on a national scale.

22. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

23. A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.

24. Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy.

25. Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics.

26. Response to Mörseburg et al.

27. Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.

28. The mediating role of ADHD symptoms between executive function and social skills in children with neurofibromatosis type 1.

29. Delineating the autistic phenotype in children with neurofibromatosis type 1.

30. Lifespan Analysis of Dystrophic mdx Fast-Twitch Muscle Morphology and Its Impact on Contractile Function.

31. Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1.

32. Dystrophin-negative slow-twitch soleus muscles are not susceptible to eccentric contraction induced injury over the lifespan of the mdx mouse.

33. Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

34. ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone.

35. Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.

36. Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.

37. Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1.

38. Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.

39. Generation of four iPSC lines from Neurofibromatosis Type 1 patients.

40. Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.

41. Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3).

42. A brief history of human disease genetics.

43. Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.

44. Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study.

45. A "human knockout" model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptations.

46. Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

47. A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol.

48. Attention to faces in social context in children with neurofibromatosis type 1.

49. Integrating Genomics into Healthcare: A Global Responsibility.

50. Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.

Catalog

Books, media, physical & digital resources