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
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