Browsing by Author Best, Heather

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Issue DateTitleAuthor(s)Citation
2015Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spineBest, Heather; Clarke, Nigel; Ilkovski, B; North, Kathryn; Oates, Emily; O'Grady, Gina Louise; Brammah, Susan; Charlton, Amanda; Hoffman, Eric P; Kaur, Simranpreet; Kesari, Akanchha; Punetha, Jaya; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRecessive ACTA1 variant causes congenital muscular dystrophy with rigid spine, European Journal of Human Genetics, vol.23, 6, 2015,pp 883-886
2016Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeBest, Heather; Clarke, Nigel; Cooper, Sandra; Menezes, Manoj; North, Kathryn; O'Grady, Gina Louise; Benavides Damm, Tatiana; Engel, Andrew; Fock, Johanna; Kamsteeg, Erik-Jan; Lek, Monkol; MacArthur, Daniel; Pride, Natalie; Turner, Christian; Verschuuren, Corien; Webster, Richard; Yuen, Michaela; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthVariants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome, Neurology, vol.87, 14, 2016,pp 1442-1448