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4,900 results on '"*ANGELMAN syndrome"'

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1. Angelman Syndrome Natural History Study

11. Early Check: Expanded Screening in Newborns

17. Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study.

18. Epigenetics in rare neurological diseases.

19. Evaluation of an In-House Genetic Testing Method for Confirming Prader-Willi and Angelman Syndromes in Sri Lanka.

20. Epilepsy, EEG and chromosomal rearrangements.

21. 1H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome.

22. A clinical-translational review of sleep problems in neurodevelopmental disabilities.

23. Ube3a unsilencer for the potential treatment of Angelman syndrome.

24. Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.

25. Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.

26. Developmental milestones and daily living skills in individuals with Angelman syndrome.

27. Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey.

28. Short Stature and Distinct Growth Characteristics in Angelman Syndrome.

30. Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study

31. 1H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome

32. A clinical-translational review of sleep problems in neurodevelopmental disabilities

33. Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).

34. Quantitative measures of motor development in Angelman syndrome

35. Colin Farrell: 'I Just Think He's Magic'.

38. NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing.

39. Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory

40. Sleep disturbance in Angelman syndrome patients

41. Outcome measures in Angelman syndrome

42. Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory.

43. Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.

44. The Type, Severity, and Impact of Sleep Problems in Children With Angelman Syndrome and Parental Help-seeking Patterns.

45. Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

46. Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader–Willi and Angelman Syndromes: A Preliminary Investigation.

47. Exploring an objective measure of overactivity in children with rare genetic syndromes.

48. Sleep disturbance in Angelman syndrome patients.

49. Outcome measures in Angelman syndrome.

50. Child characteristics associated with child quality of life and parenting stress in Angelman syndrome.

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