Publications by authors named "Veronica Seidel"

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Boosted Genomic Literacy in Nursing Students via Standardized-Patient Clinical Simulation: A Mixed-Methods Study.
Daniel Garcia-Gutiérrez, Estel la Ramírez-Baraldes, Maria Orera, Verónica Seidel, Carmen Martínez

Nurs Rep· August 2025

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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, Mónica Centeno-Pla, Jaime Sánchez-Pozo, Veronica Seidel

Pediatr Neurol· June 2024

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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Verónica Seidel

Eur J Hum Genet· October 2023

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Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in and Literature Review.
Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Veronica Seidel

Genes (Basel)· August 2023

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, Silvia Modamio-Høybjør, Lucia Sentchordi-Montané, Verónica Seidel

Clin Genet· July 2023

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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz

J Clin Med· July 2023

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Verónica Adriana Seidel

Front Genet· April 2022

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, David T Miller, Kristina Cusmano-Ozog, Veronica Seidel

Clin Genet· April 2021

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Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Julia Suárez-González, Verónica Seidel, Cristina Andrés-Zayas, Elvira Izquierdo, Ismael Buño

BMC Med Genomics· March 2021

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New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Virginia Pérez-Grijalba, Alberto García-Oguiza, María López, Judith Armstrong, Sixto García-Miñaur, Verónica Seidel

Mol Genet Genomic Med· November 2019

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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Verónica Seidel

BMC Med Genet· March 2018

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First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro

BMC Med Genet· December 2016

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DNA methylation profiling at imprinted loci after periconceptional micronutrient supplementation in humans: results of a pilot randomized controlled trial.
Wendy N Cooper, Batbayar Khulan, Stephen Owens, Cathy E Elks, Veronica Seidel

FASEB J· May 2012

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Areca-nut abuse and neonatal withdrawal syndrome.
Maria Angeles López-Vilchez, Veronica Seidel, MagI Farré, Oscár García-Algar, Simona Pichini

Pediatrics· January 2006

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Acanthosis nigricans as an adverse effect of highly active antiretroviral therapy in an adolescent girl with human immunodeficiency virus infection.
Antonio Mur, Veronica Seidel, María Angeles López-Vílchez, Mariona Bonet, Montserrat Gilaberte

Pediatr Infect Dis J· August 2005

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