Browsing by Author Crofts, Stephanie

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Issue DateTitleAuthor(s)Citation
2015Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital AmaurosisJamieson, Robyn; Crofts, Stephanie; et al, Various; Flaherty, Maree; Guo, Yiran; Liang, Jinlong; Prokudin, I; Tian, Lifeng; Wang, Fengxiang; Xie, Yi; Yu, Cong; Childrens Medical Research Institute (CMRI)Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis, Ophthalmic Genetics, vol.36, 4, 2015,pp 333-338
2015A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology reportCrofts, Stephanie; Grigg, John; Wilson, Meredith; Mohd Khialdin, Safinaz; Rowe, Neil; Troedson, Chris; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Hospital Westmead: Paediatrics & Child HealthA negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report, Documenta Ophthalmologica, vol.131, N/A, 2015,pp 215-220
2017Ocular and electrophysiological findings in a patient with Sly syndromeCrofts, Stephanie; Flaherty, Maree; Geering, Katie; Grigg, John; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye Health; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye HealthOcular and electrophysiological findings in a patient with Sly syndrome, Ophthalmic Genetics, vol.38, 4, 2017,pp 376-379