Natalia Gallego

Brussels, BRU 1070, Belgium

Last Updated: 09/26/2026

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Found 15 publications

Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Journal: Life (Basel, Switzerland)

Published: July 22, 2024

Mortality in Patients with 22q11.2 Rearrangements.

Mortality in Patients with 22q11.2 Rearrangements.

Journal: Genes

Published: July 17, 2024

Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Journal: Clinical genetics

Published: June 14, 2024

Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.

Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.

Journal: Clinical genetics

Published: May 16, 2023

Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.

Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.

Journal: American journal of respiratory cell and molecular biology

Published: March 14, 2023

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.

Journal: Cancers

Published: June 20, 2022

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.

Journal: Frontiers in endocrinology

Published: June 09, 2022

A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

Journal: American journal of medical genetics. Part A

Published: March 09, 2022

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.

Journal: Cells

Published: October 22, 2021

Prevalence of genetic variants in pediatric pulmonary arterial hypertension associated with corrected D-transposition of the great arteries. The REHIPED registry.

Prevalence of genetic variants in pediatric pulmonary arterial hypertension associated with corrected D-transposition of the great arteries. The REHIPED registry.

Journal: Revista espanola de cardiologia (English ed.)

Published: September 02, 2021

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.

Journal: Cells

Published: May 06, 2021

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Journal: Clinical genetics

Published: April 05, 2021

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Last Updated: 09/26/2026