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NPJ Genomic Medicine|October 21, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityHuma Cheema, Aida M Bertoli-Avella, Volha Skrahina, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 26, 2024
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's DiseaseMandy Radefeldt, Sabrina Lemke, Kridsadakorn Chaichoompu, et al.Human Mutation|September 15, 2004
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)Robert Hering, Karsten M Strauss, Xiao Tao, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 2, 2005
Prospective, randomized, multicenter, double-blind placebo-controlled trial comparing adjuvant interferon alfa and isotretinoin with interferon alfa alone in stage IIA and IIB melanoma: European Cooperative Adjuvant Melanoma Treatment Study GroupErika Richtig, H Peter Soyer, Martin Posch, et al.European Journal of Human Genetics : EJHG|February 17, 2018
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disabilityAida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, et al.Neurology. Clinical Practice|February 13, 2018
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An updateMarc C Patterson, Peter Clayton, Paul Gissen, et al.Nature|October 14, 2011
A draft genome of Yersinia pestis from victims of the Black DeathKirsten I Bos, Verena J Schuenemann, G Brian Golding, et al.Brain : a Journal of Neurology|April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathiesGülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 14, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the SkinIsabell Cordts, Demet Önder, Andreas Traschütz, et al.Pageof 67