Browsing by Author Sobreira, Nara

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Issue DateTitleAuthor(s)Citation
2017Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher diseaseChristodoulou, John; Gold, Wendy; Nafisinia, Michael; Ouvrier, Robert; Riley, Lisa; Boehm, Corinne; Prelog, Kristina; Sobreira, Nara; Uhlenberg, Birgit; Weib, Claudia; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease, European Journal of Human Genetics, vol.25, 10, 2017,pp 1134-1141
2017A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunctionAdes, Lesley; Christodoulou, John; Gold, Wendy; Riley, Lisa; Franzka, Patricia; Hubner, Christian A.; Marbaix, Alexandre; Sobreira, Nara; Van Schaftingen, Emile; Wiame, Elsa; Worgan, Lisa; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction, American Journal of Medical Genetics, Part A, vol.173, 8, 2017,pp 2246-2250
2017Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseAlodaib, A; Bennetts, Bruce; Christodoulou, John; Gold, Wendy; Riley, Lisa; Wilson, Meredith; Boehm, Corinne; Sobreira, Nara; Thorburn, David; Van Bergen, Nicole J.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Veterinary Science; Childrens Hospital Westmead: Paediatrics & Child HealthWhole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease, European Journal of Human Genetics, vol.25, 1, 2017,pp 79-84