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Results: 1-2 |
Results: 2
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia.MLASA Syndrome
Authors: Riley, Lisa G. Cooper, Sandra Hickey, Peter Rudinger-Thirion, Joëlle Christodoulou, John
Citation: G. Riley, Lisa et al., Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia.MLASA Syndrome, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 52-59
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation
Authors: Weaving, Linda S. Christodoulou, John Williamson, Sarah L. Friend, Kathie L. McKenzie, Olivia L.D. Archer, Hayley Evans, Julie Clarke, Angus Pelka, Greogry J. Tam, Patrick P.L. Watson, Catherine Lahooti, Hooshang llaway, Carolyn J. Bennetts, Bruce Leonard, Helen Gécz, Jozef
Citation: S. Weaving, Linda et al., Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation, American journal of human genetics , 75(6), 2004, pp. 1079-1093
Risultati: 1-2 |