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Brain & Development|April 24, 2022
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrumThea Giacomini, Marcello Scala, Giulia Nobile, et al.Orphanet Journal of Rare Diseases|February 5, 2015
Cost effective assay choice for rare disease study designsDesmond D Campbell, Robert M Porsch, Stacey S Cherny, et al.American Journal of Medical Genetics. Part A|February 19, 2015
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?Andrea Accogli, Mattia Pacetti, Pietro Fiaschi, et al.Molecular Genetics & Genomic Medicine|February 7, 2025
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental SyndromeAlice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, et al.Brain Pathology (Zurich, Switzerland)|January 20, 2012
Characterization of glioma stem cells through multiple stem cell markers and their specific sensitization to double-strand break-inducing agents by pharmacological inhibition of ataxia telangiectasia mutated proteinAlessandro Raso, Donatella Vecchio, Enrico Cappelli, et al.Brain Pathology (Zurich, Switzerland)|November 20, 2008
Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patientsAlberto Izzotti, Alessandra Pulliero, Simona Orcesi, et al.Human Mutation|March 26, 2009
Novel mutations in VANGL1 in neural tube defectsZoha Kibar, Ciprian M Bosoi, Megan Kooistra, et al.Plos One|March 14, 2013
Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspringValeria Capra, Samantha Mascelli, Maria Luisa Garrè, et al.Journal of Neurosurgical Sciences|October 28, 2016
Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to WestAlessandro Raso, Roberto Biassoni, Samantha Mascelli, et al.Epilepsia Open|July 26, 2023
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature reviewAlice Dainelli, Michele Iacomino, Sara Rossato, et al.Pageof 18