Angela Del Pozo

La Paz, MD, Spain

Last Updated: 09/26/2026

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Found 41 publications

Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation.

Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation.

Journal: Anales de pediatria

Published: October 21, 2024

Bioinformatics and omics data management in genetic diagnosis.

Bioinformatics and omics data management in genetic diagnosis.

Journal: Anales de pediatria

Published: September 17, 2024

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

Journal: International journal of molecular sciences

Published: August 30, 2023

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Journal: International journal of molecular sciences

Published: May 25, 2023

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.

Journal: Current issues in molecular biology

Published: November 22, 2022

Women's leadership in clinical research: A retrospective observational study over two decades in Spain.

Women's leadership in clinical research: A retrospective observational study over two decades in Spain.

Journal: Revista clinica espanola

Published: April 11, 2022

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

Journal: International journal of molecular sciences

Published: March 22, 2022

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Journal: American journal of medical genetics. Part A

Published: October 05, 2021

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Journal: European journal of endocrinology

Published: May 26, 2021

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.

Journal: Genes

Published: April 11, 2021

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.

Journal: European journal of medical genetics

Published: April 06, 2021

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.

Journal: Genes

Published: March 16, 2021

Showing 1-12 of 41

Last Updated: 09/26/2026