22 results on '"Bushby K"'
Search Results
2. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review
3. Becker and Duchenne muscular dystrophy: a two-way information process for therapies
4. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
5. 165 Novel ANO5 gene mutations, c.989dupT and c.2018A→G causing Limb Girdle Muscular dystrophy 2L
6. 097 Valosin Containing Protein (VCP) and Myofibrillar Myopathies (MFM) genes' mutations are not associated with sporadic Inclusion Body Myositis (sIBM)
7. 1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome
8. Diagnosis and management of the limb girdle muscular dystrophies
9. New aspects on patients affected by dysferlin deficient muscular dystrophy
10. Social deprivation in Duchenne muscular dystrophy: population based study
11. Neuromuscular Disorders: Clinical and Molecular Genetics
12. Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion?
13. Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
14. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
15. Duchenne Muscular Dystrophy
16. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.
17. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.
18. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
19. Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.
20. Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.
21. Recent advances in understanding muscular dystrophy.
22. Centiles for adult head circumference.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.