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

3. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

6. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

7. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

10. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

11. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

12. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

13. Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice

14. Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice.

16. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

17. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

18. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

19. CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

22. Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

23. Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study

24. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

25. Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

26. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

27. Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

28. Mapping the human genetic architecture of COVID-19

30. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20orf54

31. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2

32. Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study

34. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

37. A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

38. Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.

39. Growth pattern trajectories in boys with Duchenne muscular dystrophy.

44. Outpatient appointment non-attendance and unplanned health care for children and young people with neurological conditions: a retrospective cohort study.

45. Is chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in children the same condition as in adults?

47. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

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