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Clinical Chemistry|May 20, 2008
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletionsLee-Jun C Wong, David Dimmock, Michael T Geraghty, et al.JIMD Reports|August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 MutationMatthew A Lines, C Anthony Rupar, Jack W Rip, et al.CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|December 3, 2014
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutationJulien L Marcadier, Margaret Boland, C Ronald Scott, et al.Human Molecular Genetics|May 1, 1994
Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpointB de Leeuw, M Balemans, D O Weghuis, et al.Human Molecular Genetics|August 13, 1998
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemiaM T Geraghty, D Vaughn, A J Nicholson, et al.The Canadian Journal of Cardiology|September 19, 2007
Molecular autopsy in the sudden cardiac death of a young woman: a first Canadian reportJulie Rutberg, Martin S Green, Robert M Gow, et al.BMC Medical Genetics|March 28, 2014
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial diseaseHugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, et al.Journal of Child Neurology|October 22, 2014
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human DiseaseHugh J McMillan, Peter Humphreys, Amanda Smith, et al.Genes, Chromosomes & Cancer|March 1, 1993
Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpointB de Leeuw, W Berger, R J Sinke, et al.American Journal of Obstetrics and Gynecology|April 16, 1999
Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case findingW B Hanley, L D Platt, R P Bachman, et al.Pageof 11