10 results on '"Gallano, Pia"'
Search Results
2. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
3. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
4. Phenotypic variability in a Spanish family with a Caveolin-3 mutation
5. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
6. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
7. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
8. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
9. Cylindrical spirals in two families: Clinical and genetic investigations.
10. A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.