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Journal of Medical Genetics|May 31, 2011
Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissuesMichelle M Axford, Arturo López-Castel, Masayuki Nakamori, et al.
Plos Genetics|December 25, 2013
Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissuesMichelle M Axford, Yuh-Hwa Wang, Masayuki Nakamori, et al.
BMC Neuroscience|June 21, 2006
Neural stem cells from protein tyrosine phosphatase sigma knockout mice generate an altered neuronal phenotype in cultureDavid L Kirkham, Laura K K Pacey, Michelle M Axford, et al.
American Journal of Medical Genetics. Part A|May 11, 2019
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1Danielle K Bourque, Inara Chacon Fonseca, Andrea Staines, et al.
Paediatrics & Child Health|October 6, 2025
Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome BoardAmy Y Pan, Kenzie Pulsifer, Michelle M Axford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 yearsKristin D Kernohan, Lauren Gallagher, Marie Pigeon, et al.
Plos Genetics|November 15, 2008
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determinationRandell T Libby, Katharine A Hagerman, Victor V Pineda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Journal of Medical Genetics|April 20, 2021
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics RepositoryChloe Mighton, Amanda C Smith, Justin Mayers, et al.
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