Maria Obon

Institut D'Investigació Biomèdica De Girona Dr. Josep Trueta
Girona, CT, Spain

Last Updated: 09/26/2026

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Found 8 publications

Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.

Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.

Journal: Journal of autism and developmental disorders

Published: March 21, 2025

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.

Journal: Prenatal diagnosis

Published: August 24, 2024

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Journal: Molecular genetics & genomic medicine

Published: January 29, 2024

Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.

Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.

Journal: Prenatal diagnosis

Published: January 04, 2024

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Journal: JCEM case reports

Published: July 23, 2023

ZDHHC15 as a candidate gene for autism spectrum disorder.

ZDHHC15 as a candidate gene for autism spectrum disorder.

Journal: American journal of medical genetics. Part A

Published: August 26, 2022

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

Journal: American journal of medical genetics. Part A

Published: September 30, 2020

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Journal: Clinical genetics

Published: October 24, 2019

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Last Updated: 09/26/2026