5 results on '"Sacconi, Sabrina"'
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2. Common Epigenetic Changes of D4Z4 in Contraction-Dependent and Contraction-Independent FSHD
3. Null Mutations Causing Depletion of the Type 1 Ryanodine Receptor (RYR1) Are Commonly Associated With Recessive Structural Congenital Myopathies With Cores
4. Argininosuccinate Lyase Deficiency: Mutational Spectrum in Italian Patients and Identification of a Novel ASL Pseudogene
5. Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
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