Browsing by Author Willis-Owen, Saffron

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Issue DateTitleAuthor(s)Citation
2012Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsWilson, Meredith; Christie, Louise; Corbett, Mark; Field, Michael; Friend, Kathryn; Gardner, Alison; Gecz, Jozef; Gill, Deepak S; Glubb, Georgie; Hobson, Lynne; Scheffer, Ingrid; Shaw, Marie; Willis-Owen, Saffron; Children's Hospital Westmead: Paediatrics & Child HealthExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations, European Journal of Human Genetics, vol.20, 7, 2012,pp 806-809