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Your search keyword '"Gallano, Pia"' showing total 13 results

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13 results on '"Gallano, Pia"'

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1. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

2. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

3. 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

4. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

5. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

6. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

7. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

9. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

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