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Human Mutation|June 5, 2010
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)Edward V Quadros, Shao-Chiang Lai, Yasumi Nakayama, et al.International Journal of Neonatal Screening|September 27, 2023
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot SpecimenDavid J McBride, Claire Fielding, Taksina Newington, et al.Molecular Biology Reports|January 25, 2024
The association of ABCB1 gene polymorphism with clinical response to carbamazepine monotherapy in patients with epilepsyHaroon Ur Rashid, Shakir Ullah, Daniel F Carr, et al.The Journal of Antimicrobial Chemotherapy|February 4, 2020
Genetic influence of ABCG2, UGT1A1 and NR1I2 on dolutegravir plasma pharmacokineticsEmilie R Elliot, Megan Neary, Laura Else, et al.British Journal of Clinical Pharmacology|November 20, 2020
Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepineVincent L M Yip, Henry Pertinez, Xiaoli Meng, et al.Rheumatology (Oxford, England)|October 21, 2024
Infliximab vs interferon-α in the treatment of Behçet's syndrome: clinical data from the BIO-BEHÇET'S randomized controlled trialRobert J Moots, Farida Fortune, Richard Jackson, et al.Brain : a Journal of Neurology|January 29, 2008
A missense mutation in the murine Opa3 gene models human Costeff syndromeVanessa J Davies, Kate A Powell, Kathryn E White, et al.Journal of Inherited Metabolic Disease|April 11, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathyMarit Schwantje, Merel S Ebberink, Mirjam Doolaard, et al.Annals of Clinical Biochemistry|December 3, 2020
Development of a high-throughput SARS-CoV-2 antibody testing pathway using dried blood spot specimensStuart J Moat, Wioleta M Zelek, Emily Carne, et al.International Journal of Neonatal Screening|January 22, 2024
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This ApproachNathan W P Cantley, Robert Barski, Helena Kemp, et al.Pageof 20