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Diabetes|June 29, 2004
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneityValérie Senée, Krishna M Vattem, Marc Delépine, et al.Plos Genetics|October 3, 2013
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humansFerran Casals, Alan Hodgkinson, Julie Hussin, et al.Translational Psychiatry|July 27, 2012
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophreniaJ Tarabeux, O Kebir, J Gauthier, et al.Nature Genetics|March 2, 2011
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndromeDuane L Guernsey, Makoto Matsuoka, Haiyan Jiang, et al.Frontiers in Public Health|April 28, 2025
Identifying recruitment strategies to improve the reach of evidence-based health promotion, disease prevention, and disease self-management interventions: a scoping reviewPaul A Estabrooks, Mickey L Bolyard, Tallie Casucci, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.Paediatric and Perinatal Epidemiology|October 27, 2016
3D Cohort Study: The Integrated Research Network in Perinatology of Quebec and Eastern OntarioWilliam D Fraser, Gabriel D Shapiro, François Audibert, et al.Ebiomedicine|June 9, 2022
The role of common genetic variation in presumed monogenic epilepsiesCiarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.American Journal of Human Genetics|July 6, 2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4Duane L Guernsey, Haiyan Jiang, Julie Hussin, et al.Pageof 50