Browsing by Author Lim, Sze Chern

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Issue DateTitleAuthor(s)Citation
2014A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh SyndromeChristodoulou, John; Procopis, Peter; Wilcken, Bridget; Compton, Alison; Dasvarma, Ayan; et al, Various; Gandolfo, Luke; Lim, Sze Chern; Marum, Justine; McKenzie, Matthew; Peters, Heidi; Smith, Katherine; Stroud, David; Tucker, Elena; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome, American Journal of Human Genetics, vol.94, 2, 2014,pp 209-222
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingChristodoulou, John; Calvo, Sarah; Compton, Alison; et al, various; Garone, Caterina; Hershman, Steven; Jaffe, David B.; Laskowski, Adrienne; Lieber, Daniel; Lim, Sze Chern; Liu, Shangtao; Tucker, Elena; Children's Hospital Westmead: Paediatrics & Child HealthMolecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing, Science Translational Medicine, vol.4, 118, 2012,pp 1-15
2010Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA SyndromeChristodoulou, John; Cooper, Sandra; Bahlo, Melanie; Compton, Alison; Giege, Richard; Hickey, Peter; Lim, Sze Chern; McKenzie, Matthew; Riley, Lisa G.; Rudinger-Thirion, Joelle; Ryan, Michael T; Thorburn, David R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome, American Journal of Human Genetics, vol.87, 1, 2010,pp 52-59
2013Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesChristodoulou, John; Boneh, A.; Bruno, Damien; DeGennaro, Christine; et al, Various; Friemel, Martin; Kirk, Edwin; Lim, Sze Chern; Marum, Justine; Riley, Lisa G.; Springer, Michael; Tucker, Elena; Children's Hospital Westmead: Paediatrics & Child HealthMutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes, Human Molecular Genetics, vol.22, 22, 2013,pp 4460-4473