Irene Mayoral-Hidalgo

La Paz, MD, Spain

Last Updated: 09/26/2026

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Found 8 publications

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.

Journal: Clinical genetics

Published: August 22, 2025

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.

Journal: Genes

Published: January 23, 2023

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Journal: Genes

Published: September 16, 2022

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

Journal: European journal of medical genetics

Published: October 24, 2021

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Journal: Neurogenetics

Published: April 03, 2021

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Journal: Genes

Published: February 25, 2021

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.

Journal: European journal of human genetics : EJHG

Published: September 17, 2020

Crystalluria caused by amoxicillin.

Crystalluria caused by amoxicillin.

Journal: Revista clinica espanola

Published: January 17, 2019

Showing 1-8 of 8

Last Updated: 09/26/2026