Publications by authors named "Nuria Capdevila"

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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Neus Baena, David Monk, Cinthia Aguilera, Mario F Fraga, Agustín F Fernández, Nuria Capdevila

Clin Epigenetics· May 2024

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Case report: Identification of a novel variant p.Gly215Arg in the gene causing Moebius syndrome.
Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila

Front Genet· January 2024

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High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, Elisabeth Gabau, Nuria Capdevila

Genes (Basel)· March 2023

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Núria Capdevila

PLoS One· November 2021

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Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study.
Raquel Corripio, Carla Tubau, Laura Calvo, Carme Brun, Núria Capdevila

J Pediatr Endocrinol Metab· August 2019

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Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.
Cinthia Aguilera, Elisabeth Gabau, Steve Laurie, Neus Baena, Sophia Derdak, Núria Capdevila

Mol Genet Genomic Med· January 2019

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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila

BMC Med Genet· November 2017

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