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1. RNA variant assessment using transactivation and transdifferentiation

2. Clinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelination

3. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

4. SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

5. Congenital titinopathy: comprehensive characterisation and pathogenic insights

9. Ronald Syme

15. Books

16. The clinical spectrum of developmental language impairment in school-aged children: language, cognitive, and motor findings.

18. RNA variant assessment using transactivation and transdifferentiation.

19. Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.

20. Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

21. Theoretical Prediction of Thermal Expansion Anisotropy for Y 2 Si 2 O 7 Environmental Barrier Coatings Using a Deep Neural Network Potential and Comparison to Experiment.

23. Urgent computed tomography angiography in paediatric stroke.

24. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

25. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

26. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

27. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

28. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

29. Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

30. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

31. Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

32. Influenza-associated Encephalitis/Encephalopathy Identified by the Australian Childhood Encephalitis Study 2013-2015.

33. Delineation of the movement disorders associated with FOXG1 mutations.

34. Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

35. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

36. A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy.

37. Stimulation of food intake after central galanin is associated with arcuate nucleus activation and does not differ between genetically selected low and high body weight lines of chickens.

38. The orexigenic effect of kyotorphin in chicks involves hypothalamus and brainstem activity and opioid receptors.

39. Neuropeptide Y is associated with changes in appetite-associated hypothalamic nuclei but not food intake in a hypophagic avian model.

40. Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders.

41. Neurological and magnetic resonance imaging findings in children with developmental language impairment.

42. Cognitive and psychological profile of males with Becker muscular dystrophy.

43. Child health and parental stress in school-age children with a preschool diagnosis of developmental delay.

44. Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).

45. A clinical and etiologic profile of spastic diplegia.

46. Factors predictive of outcome in childhood epilepsy.

47. Outcomes at school age of preschool children with developmental language impairment.

48. Motor function at school age in children with a preschool diagnosis of developmental language impairment.

49. The predictive value of a preschool diagnosis of developmental language impairment.

50. Neurobiology of specific language impairment.

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