Ángela Del Pozo

5PUBLICATIONS
24CO-AUTHORS
NeurogeneticsInfant and child healthGene expression (incl. microarray and other genome-wide approaches)Optical technologyAerodynamics (excl. hypersonic aerodynamics)
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Publications (5)

|Jul 29, 2023
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Patricia Rodríguez-Solana, Natalia Arruti, María Nieves-Moreno

|Jan 20, 2023
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.

Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno

|Sep 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona

|Jun 02, 2021
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.

Maria Nieves-Moreno, Susana Noval, Jesus Peralta

|Dec 29, 2018
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

Lara Rodriguez-Laguna, Noelia Agra, Kristina Ibañez

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