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Journal of Huntington'S Disease|October 8, 2016
Comparison of Huntington's disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate GyrusFiona C A Geraerts, Russell G Snell, Richard L M Faull, et al.Journal of Human Genetics|February 26, 2025
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature reviewJessie Poquérusse, Whitney Whitford, Juliet Taylor, et al.Cold Spring Harbor Molecular Case Studies|July 12, 2017
Compound heterozygous <i>SLC19A3</i> mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia diseaseWhitney Whitford, Isobel Hawkins, Emma Glamuzina, et al.Genes|February 27, 2026
Foundations of an Ovine Model of Fragile X SyndromeVictoria Hawkins, Skye R Rudiger, Clive J McLaughlan, et al.JIMD Reports|November 22, 2017
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub> Deficiency in a Female Sib-PairJessie C Jacobsen, Whitney Whitford, Brendan Swan, et al.Journal of Inherited Metabolic Disease|October 27, 2015
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorderJessie C Jacobsen, Callum Wilson, Vicki Cunningham, et al.Journal of Huntington'S Disease|February 23, 2024
Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's DiseaseRenee R Handley, Suzanne J Reid, Zoe Burch, et al.Human Molecular Genetics|May 4, 2011
HD CAG-correlated gene expression changes support a simple dominant gain of functionJessie C Jacobsen, Gillian C Gregory, Juliana M Woda, et al.JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>-related mitochondrial diseaseJessie Poquérusse, Melinda Nolan, David R Thorburn, et al.Case Reports in Genetics|November 21, 2015
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1Jessie C Jacobsen, Emma Glamuzina, Juliet Taylor, et al.Pageof 4