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Journal of Genetic Counseling|September 26, 2017
Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in SpainPatricia Muñoz-Cabello, Sixto García-Miñaúr, Manuel Eliecer Espinel-Vallejo, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 14, 2022
Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential DiagnosisEva Manuela Pena-Burgos, Rita María Regojo, Miguel Sáenz de Pipaón, et al.
Genes|April 30, 2021
Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish FamiliesCelia Fernández-Alcalde, María Nieves-Moreno, Susana Noval, et al.
Journal of Genetic Counseling|July 4, 2021
Further validation and psychometric properties of the Spanish adaptation of the Genetic Counseling Outcome ScaleRoser Lleuger-Pujol, Eduardo Ortega Castelló, Lorenzo Fernández Franco, et al.
Genes|November 25, 2023
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary HospitalAna Karen Sandoval-Talamantes, Jair Antonio Tenorio-Castaño, Fernando Santos-Simarro, et al.
Molecular Genetics and Metabolism Reports|January 25, 2017
A new variant in <i>PHKA2</i> is associated with glycogen storage disease type IXaCarmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, et al.
Frontiers in Genetics|January 23, 2023
Case report: A third variant in the 5' UTR of <i>TWIST1</i> creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndromeFrancisca Diaz-Gonzalez, Javier M Sacedo-Gutiérrez, Stephen R F Twigg, et al.
Clinical Genetics|October 31, 2023
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorderAlejandro Parra, Patricia Pascual, Mario Cazalla, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|May 30, 2020
Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in SpainTamara Illescas, Elena Mansilla, Beatriz Herrero, et al.
European Journal of Human Genetics : EJHG|December 2, 2024
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCDXavier Vendrell, Anna Abulí, Clara Serra, et al.
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