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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 1, 2003
Metabolic disorders and mental retardationStephen G Kahler, Michael C FaheyClinical Chemistry|October 31, 2002
Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometryJames J Pitt, Mary Eggington, Stephen G KahlerCurrent Pharmaceutical Design|September 6, 2016
Enteric Ecosystem Disruption in Autism Spectrum Disorder: Can the Microbiota and Macrobiota be Restored?John Slattery, Derrick F MacFabe, Stephen G Kahler, et al.Molecular Diagnosis & Therapy|July 25, 2018
Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum DisorderShannon Rose, Dmitriy M Niyazov, Daniel A Rossignol, et al.Neuropediatrics|November 23, 2016
Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High LactateElizabeth A Sellars, Tonya Balmakund, Katherine Bosanko, et al.Neurology|August 17, 2018
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiencyJohn Vissing, H Orhan Akman, Jan Aasly, et al.The Journal of Biological Chemistry|October 14, 2003
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethalityHeidi Peters, Mikhail Nefedov, Joseph Sarsero, et al.American Journal of Medical Genetics. Part A|April 6, 2005
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndromeDavid J Hur, Gerald V Raymond, Stephen G Kahler, et al.Human Mutation|October 29, 2002
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutationsHeidi L Peters, Mikhael Nefedov, Lai Wah Lee, et al.American Journal of Medical Genetics. Part A|June 17, 2008
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermiaDemetra S Stamm, Arthur S Aylsworth, Jeffrey M Stajich, et al.Pageof 3