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Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.Biological Psychiatry|July 22, 2010
De novo truncating mutation in Kinesin 17 associated with schizophreniaJulien Tarabeux, Nathalie Champagne, Edna Brustein, et al.American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.Childhood Obesity (Print)|October 29, 2025
Considerations for Cost Assessment of Implementing Family Healthy Weight Programs Across Community and Clinical ContextsTzeyu L Michaud, Jennie L Hill, Kate A Heelan, et al.Journal of Pediatric Gastroenterology and Nutrition|November 3, 2009
Enteral nutrient supply for preterm infants: commentary from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition Committee on NutritionC Agostoni, G Buonocore, V P Carnielli, 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.Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.Transplantation|October 3, 1999
Safety, tolerability and efficacy of cyclosporine microemulsion in heart transplant recipients: a randomized, multicenter, double-blind comparison with the oil based formulation of cyclosporine--results at six months after transplantationH J Eisen, R E Hobbs, S F Davis, et al.Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.Pageof 50