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1. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

3. Ataluren Slows the Decline of Muscle Function in Patents with nmDMD: A Meta-analysis of Three Randomized, Double-blind, Placebo-controlled Trials (P3-11.002)

4. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

5. Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy

6. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

10. Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

13. Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

14. Transcriptome analysis of a ring chromosome 20 patient cohort

15. Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use

16. Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

17. Transcriptome analysis of a ring chromosome 20 patient cohort.

19. Nusinersen for SMA: expanded access programme

20. Additional file 1: Table S1. of Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

21. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

23. Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

24. Reviewers

25. List of Contributors

26. Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

27. Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.

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