5 results on '"Ferrer Monasterio X"'
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2. P.245 - Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
3. A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
4. Bent spine syndrome as the initial symptom of late-onset Pompe disease.
5. PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.
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