Gema Grau

Barakaldo, PV, Spain

Last Updated: 09/26/2026

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Found 16 publications

Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.

Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.

Journal: Clinical epigenetics

Published: October 29, 2025

Correction: Genetic profile of a large Spanish cohort with hypercalcemia.

Correction: Genetic profile of a large Spanish cohort with hypercalcemia.

Journal: Frontiers in endocrinology

Published: October 23, 2025

Genetic profile of a large Spanish cohort with hypercalcemia.

Genetic profile of a large Spanish cohort with hypercalcemia.

Journal: Frontiers in endocrinology

Published: September 20, 2023

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

Journal: PloS one

Published: February 13, 2023

25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics.

25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics.

Journal: Nutrients

Published: March 30, 2022

Potential of Erythrocyte Membrane Lipid Profile as a Novel Inflammatory Biomarker to Distinguish Metabolically Healthy Obesity in Children.

Potential of Erythrocyte Membrane Lipid Profile as a Novel Inflammatory Biomarker to Distinguish Metabolically Healthy Obesity in Children.

Journal: Journal of personalized medicine

Published: March 29, 2021

Molecular Differences Based on Erythrocyte Fatty Acid Profile to Personalize Dietary Strategies between Adults and Children with Obesity.

Molecular Differences Based on Erythrocyte Fatty Acid Profile to Personalize Dietary Strategies between Adults and Children with Obesity.

Journal: Metabolites

Published: November 13, 2020

Fatty Acid Profile of Mature Red Blood Cell Membranes and Dietary Intake as a New Approach to Characterize Children with Overweight and Obesity.

Fatty Acid Profile of Mature Red Blood Cell Membranes and Dietary Intake as a New Approach to Characterize Children with Overweight and Obesity.

Journal: Nutrients

Published: September 30, 2020

Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial.

Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial.

Journal: Clinical and translational medicine

Published: September 17, 2020

For Debate: Paediatric T1DM: DKA is Still a Problem.

For Debate: Paediatric T1DM: DKA is Still a Problem.

Journal: Pediatric endocrinology reviews : PER

Published: December 18, 2018

Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene.

Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene.

Journal: Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion

Published: January 21, 2016

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 20, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026