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Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.
Journal of Clinical Microbiology|October 3, 2024
Whole-genome sequencing resolves biochemical misidentification of Neisseria species from urogenital specimensAmanda C Smith, Apurva Shrivastava, John C Cartee, et al.
Journal of Medical Genetics|December 23, 2022
Development of a comprehensive approach to adult hereditary cancer testing in OntarioKathleen Anne Bell, Raymond Kim, Melyssa Aronson, et al.
Veterinary and Comparative Oncology|March 8, 2025
Contrast-Enhanced Computed Tomography for Identification of Potential Malignancy in Canine Colorectal Mesenchymal TumoursAlexandria D Bourgeois, Owen T Skinner, James J Karnia, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc|September 20, 2024
Bacillary hemoglobinuria in beef cattle infected with Fascioloides magna in MissouriRosalie A Ierardi, Annabelle L Burnum, Lauren E Camp, 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.
American Journal of Human Genetics|November 27, 2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
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