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Publications by authors named "Alfredo Reparaz"

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[Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report].
Lucía Rivas, Óscar Blanco, Cristina Torreira, Alfredo Repáraz, Cristina Melcón

Rev Chil Pediatr· April 2018


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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
Beatriz San Millan, Jose M Fernandez, Carmen Navarro, Alfredo Reparaz, Susana Teijeira

Clin Neuropathol· February 2017


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[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene].
Óscar Blanco-Barca, Alfonso Amado-Puentes, Alfredo Repáraz, Cristina Melcón, Cristina Torreira

Rev Neurol· March 2016


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Pneumomediastinum and pneumothorax as presenting signs in severe Mycoplasma pneumoniae pneumonia.
José L Vázquez, Ignacio Vázquez, Maria L González, José L García-Tejedor, Alfredo Repáraz

Pediatr Radiol· December 2007


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