Browsing by Author St. Heaps, Luke

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Issue DateTitleAuthor(s)Citation
2006Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.Billson, FranK; Grigg, John; Haywood, Ashley; Jamieson, Robyn; Mihelec, Marija; Nolen, Leisha; Tam, Patrick; Willcock, Christopher; Amor, David; Peters, Greg; St. Heaps, Luke; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Childrens Medical Research Ins; Clinical SchoolsDeletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies., American journal of medical genetics Part A, vol.140,(16),2006,pp 1711-1718
2017A Paediatric Acute Promyelocytic Leukaemia Patient Harbouring a Cryptic PML-RARA Insertion due to a Complex Structural Chromosome 17 RearrangementHung, Dorothy; Kellie, Stewart; Wright, Dale; Ghaoui, Racha El-Hajj; Harris, Catherine; Mirochnik, O; Nagabushan, Sumanth; Sharma, Praveen; St. Heaps, Luke; Childrens Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA Paediatric Acute Promyelocytic Leukaemia Patient Harbouring a Cryptic PML-RARA Insertion due to a Complex Structural Chromosome 17 Rearrangement, Cytogenetic and Genome Research, vol.153, 4, 2017,pp 181-189