12 results on '"Pires, M A"'
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2. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
3. Late-onset limb-girdle myopathy with oculobulbar signs and rimmed vacuoles associated with a novel Pompe disease mutation
4. Ryanodine-related myopathies: Clinical, histopathologic and genetic heterogeneity among 16 patients from a Portuguese tertiary centre
5. The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood
6. Duchenne muscular dystrophy: Clinical, genetic and pathological changes in preclinical and early stages
7. P.226 - Late-onset limb-girdle myopathy with oculobulbar signs and rimmed vacuoles associated with a novel Pompe disease mutation
8. P.346 - The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood
9. P.162 - Ryanodine-related myopathies: Clinical, histopathologic and genetic heterogeneity among 16 patients from a Portuguese tertiary centre
10. P.120 - Duchenne muscular dystrophy: Clinical, genetic and pathological changes in preclinical and early stages
11. P3.35. Expanding the mutation spectrum of the MTM1 gene: The first multi-exonic duplication and establishment of a locus-specific database
12. P.P.5 03 Generalized muscle hypertrophy, multi-minicores and ryanodine receptor type 1 gene mutation – case report
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