Showing results (251-260 of 313) with videos related to
Sort By:
Pageof 32
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.Brain : a Journal of Neurology|April 18, 2023
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3Mafalda Raposo, Jeannette Hübener-Schmid, Ana F Ferreira, et al.Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.Archives of Neurology|October 10, 2007
Asian origin for the worldwide-spread mutational event in Machado-Joseph diseaseSandra Martins, Francesc Calafell, Claudia Gaspar, et al.Human Molecular Genetics|March 7, 2003
Transgenic rat model of Huntington's diseaseStephan von Hörsten, Ina Schmitt, Huu Phuc Nguyen, et al.Nature Communications|September 4, 2019
Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson's diseaseParaskevi Krashia, Alberto Cordella, Annalisa Nobili, et al.Nature Communications|October 16, 2019
Author Correction: Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson's diseaseParaskevi Krashia, Alberto Cordella, Annalisa Nobili, et al.European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 16, 2021
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral BloodJeannette Hübener-Schmid, Kirsten Kuhlbrodt, Julien Peladan, et al.Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.Pageof 32