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List of works by Iria Roca

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

scientific article published on 11 April 2018

Arterial stiffness assessment in patients with phenylketonuria.

scientific article published in December 2017

Carbohydrate status in patients with phenylketonuria.

scientific article

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

scientific article published on 01 September 2019

Free-access copy-number variant detection tools for targeted next-generation sequencing data

scientific article published on 01 January 2019

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.

scientific article published on 09 September 2016

Micronutrient in hyperphenylalaninemia

scientific article published on August 2015

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

scientific journal article

PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes

scientific article published on 23 July 2019

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.

scientific article published on 27 May 2018

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

scientific article published on 08 November 2019

Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

scientific article published on 01 August 2018

Similarities between acylcarnitine profiles in large for gestational age newborns and obesity

scientific article published on 24 November 2017

Vitamin and mineral status in patients with hyperphenylalaninemia

scientific article published on 27 June 2015

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