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Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.
JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.
Molecular Genetics and Metabolism|November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoringSylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Blood|September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
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