Browsing by Author Tarpey, Patrick

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Issue DateTitleAuthor(s)Citation
2010CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesGrigg, John; Wilson, Meredith; Boyle, Jackie; Cox, James; et al, various; Hackett, A; Licata, Andrea; Partington, Michael; Rogers, Carolyn; Stevenson, Roger; Tarpey, Patrick; Tolmie, John; Whibley, Annabel; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child HealthCASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes, European Journal of Human Genetics, vol.18, 5,pp 544-552
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.Christodoulou, John; Al Raisi, Zahyia; Bayly, Marta; Berkovic, Samuel F.; Brown, Natasha; Desai, Tarishi; Dibbens, Leanne; et al, various; Haan, Eric; Hynes, Kim; Smith, Raffaella; Tarpey, Patrick; Turner, Samantha; Children's Hospital Westmead: Paediatrics & Child HealthEpilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families., Journal of Medical Genetics, vol.47, 3,pp 211-216
2008Exclusion of biglycan mutations in a cohort of patients with neuromuscular disordersNorth, Kathryn; Fallon, Justin; Futreal, Andrew; Gecz, Jozef; Lamande, Shireen R.; Peat, Rachel; Smith, Raffaella; Stratton, Michael; Tarpey, Patrick; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child HealthExclusion of biglycan mutations in a cohort of patients with neuromuscular disorders, Neuromuscular Disorders, vol.18, 8, 2008,pp 606-609