Browsing by Author Chen, Yulan

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Issue DateTitleAuthor(s)Citation
2014Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1Al-Odaib, Ahmad; Barbaro, Pasquale; Bryan, Tracy; Christodoulou, John; Kartawinata, Melissa; Pickett, Hilda; Reddel, Roger; Chen, Yulan; Guo, Yiran; Hakonarson, Haron; Keating, Brendan; Kilo, Tatjana; Li, Jiankang; Teo, Juliana; Tian, Lifeng; Xu, Xun; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research InsInherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1, Blood, vol.124, 18, 2014,pp 2767-2774
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
2017Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderChristodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Chen, Yulan; Dang, Xiao; Guo, Yiran; Hakonarson, Hakon; Keating, Brendan; Lake, Nicole; Li, Jiankang; Thornburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder, JIMD Reports, vol.32, N/A, 2017,pp 117-124