7 results on '"Gallano, Pia"'
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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. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
4. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
5. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
6. Cylindrical spirals in two families: Clinical and genetic investigations
7. 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
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