Browsing by Author Boehm, Corinne

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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
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