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Journal of Medical Genetics|October 28, 2015
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implicationsFátima Torres, Mafalda Barbosa, Patrícia MacielBiochimie|December 28, 2025
Extracellular mitochondria: a potential player involved in exercise health benefitsMafalda Barbosa Pedrosa, Lúcio Lara Santos, Rita Ferreira, et al.Biochimie|March 27, 2024
The impact of chemotherapy on adipose tissue remodeling: The molecular players involved in this tissue wastingSamuel Barbosa, Mafalda Barbosa Pedrosa, Rita Ferreira, et al.Biomedicines|March 29, 2023
Chemotherapy-Induced Molecular Changes in Skeletal MuscleMafalda Barbosa Pedrosa, Samuel Barbosa, Rui Vitorino, et al.Acta Medica Portuguesa|June 2, 2011
[Osteopathia striata with cranial sclerosis]Mafalda Barbosa, Bram Perdu, Virgílio Senra, et al.International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|August 20, 2015
Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 geneJosé Pedro Vieira, Fátima Lopes, Anabela Silva-Fernandes, et al.JAMA Neurology|February 13, 2013
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese surveyJosé Leal Loureiro, Eva Brandão, Luis Ruano, et al.BMC Genomics|July 1, 2026
Variant-specific RNA testing resolves variants of uncertain significance in exome testingAudrey K O'Neill, Grace E VanNoy, Brooklynn Gasser, et al.Journal of Medical Genetics|January 8, 2016
Identification of novel genetic causes of Rett syndrome-like phenotypesFátima Lopes, Mafalda Barbosa, Adam Ameur, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 9, 2010
Osteopathia striata with cranial sclerosis owing to WTX gene defectBram Perdu, Fenna de Freitas, Suzanne G M Frints, et al.Pageof 3