Alfredo
Repáraz Andrade
Publicacións (9) Publicacións de Alfredo Repáraz Andrade
2022
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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250
2021
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Clear cell clusters in the kidney: a rare finding that should not be misdiagnosed as renal cell carcinoma
Virchows Archiv, Vol. 479, Núm. 1, pp. 57-67
2019
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Estudios genéticos en diagnóstico prenatal. Recomendación (2018)
Revista del laboratorio clínico, Vol. 12, Núm. 1, pp. 27-37
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The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability
Journal of Human Genetics, Vol. 64, Núm. 3, pp. 221-231
2017
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Pontocerebellar hypoplasia secondary to CASK gene deletion. Case report
Revista Chilena de Pediatria, Vol. 88, Núm. 4, pp. 529-533
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Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion
Neuropediatrics
2016
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Spinal muscular atrophy with respiratory distress type 1 (SMARD1): Report of a Spanish case with extended clinicopathological follow-up
Clinical Neuropathology, Vol. 35, Núm. 2, pp. 58-65
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Spinocerebellar ataxia-27: Description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene
Revista de Neurologia
2011
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Model predicting survival / exitus after traumatic brain injury: Biomarker S100B 24H
Clinical Laboratory, Vol. 57, Núm. 7-8, pp. 587-597