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Frontiers in Genetics|October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndromeMarta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.Genes|October 27, 2022
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI)Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, et al.Annals of Human Genetics|July 18, 2018
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patientsCarmen Palma Milla, José Miguel Lezana Rosales, Javier López Montiel, et al.Current Allergy and Asthma Reports|October 7, 2025
Phenotypic Features of Central Compartment Atopic Disease Compared with Other Types of Chronic Rhinosinusitis: A Systematic ReviewJulissa Vizcarra-Melgar, Ramón Moreno-Luna, Daniel Martín-Jiménez, et al.International Forum of Allergy & Rhinology|February 6, 2026
Rationale of New Grading System: Central Compartment Atopic DiseaseRamón Moreno-Luna, Carmen Palma-Martínez, Serafin Sánchez-Gómez, et al.Journal of Pediatric Genetics|August 14, 2023
A Novel Pathogenic Variant in the <i>MN1</i> Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation SyndromeCarmen Palma Milla, Pérez Mohand Patricia, José M Lezana, et al.American Journal of Medical Genetics. Part A|December 11, 2020
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detectionMarta Moreno-García, Ana Rosa Arteche-López, María Isabel Álvarez-Mora, et al.European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|October 24, 2025
Surgical extent in chronic rhinosinusitis stratified by the LOEM system: systematic review and meta-analysisMiriam González-García, Lucía Prieto-Sánchez-de-Puerta, Meritxell Clari-Comes, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 19, 2021
Expanding the clinical and genetic spectrum of <i>SQSTM1</i>-related disorders in family with personality disorder and frontotemporal dementiaSara Llamas-Velasco, Ana Arteche-López, Antonio Méndez-Guerrero, et al.Genes|September 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of <i>FMR1</i> Gene: Case Report and Literature ReviewMaria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, et al.Pageof 3