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List of works by Alfredo Repáraz

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

scientific article published on 9 July 2018

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

scientific article published on 01 November 2018

Model predicting survival/exitus after traumatic brain injury: biomarker S100B 24h.

scientific article published in January 2011

Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance

scientific article published on 02 April 2019

Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report

scientific article published in January 2017

Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion.

scientific article

The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability

scientific article published on 05 December 2018

[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene]

article by Oscar Blanco-Barca et al published 1 March 2016 in Revista de neurología

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