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JIMD Reports|August 3, 2017
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of AscertainmentPaula J Waters, Thomas M Kitzler, Annette Feigenbaum, et al.
Brain : a Journal of Neurology|August 12, 2008
Autologous olfactory ensheathing cell transplantation in human paraplegia: a 3-year clinical trialA Mackay-Sim, F Féron, J Cochrane, et al.
Journal of Inherited Metabolic Disease|October 28, 2010
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Stefan Kölker, Dione Ng, et al.
Molecular Genetics and Metabolism|September 13, 2015
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014)Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2012
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence frameworkBeth K Potter, Pranesh Chakraborty, Jonathan B Kronick, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literatureA Erez, J Li, M T Geraghty, et al.
European Journal of Human Genetics : EJHG|September 6, 2021
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiencyMatthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, et al.
Pediatric Pulmonology|April 24, 2023
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian InuitJulia Hunter-Schouela, Michael T Geraghty, Robert A Hegele, et al.
Molecular Genetics and Metabolism|January 14, 2009
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGHOleg A Shchelochkov, Fang-Yuan Li, Michael T Geraghty, et al.
Molecular Genetics and Metabolism|December 23, 2017
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profilingKevin E Glinton, Paul J Benke, Matthew A Lines, et al.
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