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The Journal of Biological Chemistry|March 30, 2001
New splicing-site mutations in the SURF1 gene in Leigh syndrome patientsM O Pequignot, I Desguerre, R Dey, et al.Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.Human Mutation|April 11, 2001
Mutation analysis of the tyrosinase gene in oculocutaneous albinismO Camand, D Marchant, S Boutboul, et al.Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics|February 23, 2020
Sub-lethal effects of calcium dinonylnaphthalenesulfonate on Western clawed frog embryosS J Wallace, A J A Leclerc, R Prosser, et al.Human Mutation|January 1, 1996
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.Human Genetics|June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiencyC Marsac, C Benelli, I Desguerre, et al.Trials|January 26, 2023
COS-Speech: protocol to develop a core outcome set for dysarthria after stroke for use in clinical practice and researchC Mitchell, A Bowen, P Conroy, et al.Environmental Pollution (Barking, Essex : 1987)|June 30, 2020
Polycyclic aromatic compounds (PACs) in the Canadian environment: Exposure and effects on wildlifeS J Wallace, S R de Solla, J A Head, et al.Ophthalmic Genetics|September 27, 2002
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophyD Marchant, K Gogat, P Dureau, et al.Journal of Medical Genetics|February 9, 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophyD Marchant, K Yu, K Bigot, et al.Pageof 15