Angela del Pozo Maté

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La Paz University Hospital

Spain

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Articles (10)

Year:

2023

Year:

2022

Year:

2022

Year:

2022

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2021

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2021

Year:

2021

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2021

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2021

Year:

2021

Collaborators (10)

Angel Campos-Barros

Head of the Molecular Endocrinology Division

La Paz University Hospital

SPAIN

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María Palomares-Bralo

Associate professor

Universidad Rey Juan Carlos - Campus de Fuenlabrada

SPAIN

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Elena Vallespín

La Paz University Hospital

SPAIN

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James Blackburn

Garvan Institute of Medical Research

AUSTRALIA

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D Kreil

AUSTRIA

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Andreas Scherer

Institute for Molecular Medicine Finland

FINLAND

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Guiomar Perez de Nanclares

SPAIN

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Karen Gripp

Chief

Nemours Children's Health System

UNITED STATES

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Timothy Mercer

Associate Professor

University of Queensland

AUSTRALIA

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Jozef Gecz

AUSTRALIA

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Angela del Pozo Maté

Research Interests

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Articles (10)

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

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.

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

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

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

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

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

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

Collaborators (10)

Angel Campos-Barros

María Palomares-Bralo

Elena Vallespín

James Blackburn

D Kreil

Andreas Scherer

Guiomar Perez de Nanclares

Karen Gripp

Timothy Mercer

Jozef Gecz

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