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Preventive Veterinary Medicine|October 16, 2025
Automating classification of veterinary biosecurity recommendations using machine learningVitória R Lima-Campêlo, Mariana Fonseca, Marie-Pascale Morin, et al.
HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Plos One|November 20, 2024
Treatment approaches to horses with acute diarrhea admitted to referral institutions: A multicenter retrospective studyDiego E Gomez, Jamie J Kopper, David P Byrne, et al.
Science (New York, N.Y.)|July 11, 1997
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasisE D Carstea, J A Morris, K G Coleman, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
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