Browsing by Author Liang, Jinlong

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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
2015Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectChristodoulou, John; Clarke, Nigel; Guo, Yiran; Liang, Jinlong; Menezes, Manoj; Menezes, Minal; Andrews, P Ian; et al, Various; Keating, Brendan; Li, Dong; Liu, Xuanzhu; Riley, Lisa G.; Shen, Yulan; Thorburn, David R.; Tian, Lifeng; Wang, Fengxiang; Webster, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthDelayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect, Neuromuscular Disorders, vol.25, N/A, 2015,pp 257-261
2015Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patientsJamieson, Robyn; Wilson, Meredith; Chen, Yulan; Goodwin, Linda; Guo, Yiran; Hakonarson, Hákon H.; He, Sijie; Keating, Brendan; Li, Dong; Liang, Jinlong; Prokudin, I; Rose, Loreto; Tian, Lifeng; Xu, Xun; Childrens Medical Research Institute (CMRI); Childrens Hospital Westmead: Paediatrics & Child HealthValue of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients, Clinical and Experimental Ophthalmology, vol.43, 2, 2015,pp 132-138