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DC Field | Value | Language |
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dc.contributor.author | Venugopal, P. | - |
dc.contributor.author | Arts, P. | - |
dc.contributor.author | Fox, L. C. | - |
dc.contributor.author | Simons, A. | - |
dc.contributor.author | Hiwase, D. K. | - |
dc.contributor.author | Bardy, P. G. | - |
dc.contributor.author | Swift, A. | - |
dc.contributor.author | Ross, D. M. | - |
dc.contributor.author | van Vulpen, L. F. D. | - |
dc.contributor.author | Buijs, A. | - |
dc.contributor.author | Bolton, K. L. | - |
dc.contributor.author | Getta, B. | - |
dc.contributor.author | Furlong, E. | - |
dc.contributor.author | Carter, T. | - |
dc.contributor.author | Krapels, I. | - |
dc.contributor.author | Hoeks, M. | - |
dc.contributor.author | Al Kindy, A. | - |
dc.contributor.author | Al Kindy, F. | - |
dc.contributor.author | de Munnik, S. | - |
dc.contributor.author | Evans, P. | - |
dc.contributor.author | Frank, M. S. B. | - |
dc.contributor.author | Bournazos, A. M. | - |
dc.contributor.author | Cooper, S. T. | - |
dc.contributor.author | Ha, T. T. | - |
dc.contributor.author | Jackson, M. R. | - |
dc.contributor.author | Arriola-Martinez, L. | - |
dc.contributor.author | Phillips, K. | - |
dc.contributor.author | Brennan, Y. | - |
dc.contributor.author | Bakshi, M. | - |
dc.contributor.author | Ambler, K. | - |
dc.contributor.author | Gao, S. | - |
dc.contributor.author | Kassahn, K. S. | - |
dc.contributor.author | Kenyon, R. | - |
dc.contributor.author | Hung, K. | - |
dc.contributor.author | Babic, M. | - |
dc.contributor.author | McGovern, A. | - |
dc.contributor.author | Rawlings, L. | - |
dc.contributor.author | Vakulin, C. | - |
dc.contributor.author | Dejong, L. | - |
dc.contributor.author | Fathi, R. | - |
dc.contributor.author | McRae, S. | - |
dc.contributor.author | Myles, N. | - |
dc.contributor.author | Ladon, D. | - |
dc.contributor.author | Jongmans, M. | - |
dc.contributor.author | Kuiper, R. P. | - |
dc.contributor.author | Poplawski, N. K. | - |
dc.contributor.author | Barbaro, P. | - |
dc.contributor.author | Blombery, P. | - |
dc.contributor.author | Brown, A. L. | - |
dc.contributor.author | Hahn, C. N. | - |
dc.contributor.author | Scott, H. S. | - |
dc.date.accessioned | 2024-09-02T05:57:24Z | - |
dc.date.available | 2024-09-02T05:57:24Z | - |
dc.date.issued | 2024 | - |
dc.identifier.issn | 24739529 (ISSN) | - |
dc.identifier.uri | https://swslhd.intersearch.com.au/swslhdjspui/handle/1/13028 | - |
dc.publisher | American Society of Hematology | - |
dc.subject | transcription factor ETV6 amegakaryocytic thrombocytopenia autosomal dominant inheritance bone marrow depression cell differentiation clinodactyly clonal hematopoiesis genetic screening hearing impairment heart atrium septum defect heart ventricle septum defect hematopoietic stem cell human Letter myelodysplastic syndrome patent ductus arteriosus phenotype radioulnar synostosis | - |
dc.title | Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion | - |
dc.type | Journal Article | - |
dc.contributor.swslhdauthor | Getta, Bartlomiej | - |
dc.description.affiliates | Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia Centre for Cancer Biology, An alliance between SA Pathology, University of South Australia, Adelaide, SA, Australia Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia Peter MacCallum Cancer Centre, The Royal Melbourne Hospital, Melbourne, VIC, Australia Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Netherlands Radboud Institute for Oncology, Radboud University Medical Center, Nijmegen, Netherlands Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia Department of Paediatric Haematology, Queensland Children?s Hospital, South Brisbane, QLD, Australia Department of Haematology, Flinders Medical Centre, Adelaide, SA, Australia Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands Department of Genetics, University Medical Center, Utrecht, Netherlands Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States Department of Haematology, Liverpool Hospital, Liverpool, NSW, Australia Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children?s Hospital, Perth, WA, Australia Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands Department of Hematology, Radboud University Medical Center, Nijmegen, Netherlands Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Department of Genetics, Sultan Qaboos University, Muscat, Oman Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands Children?s Health Ireland at Crumlin, Dublin, Ireland Kids Neuroscience Centre, The Children?s Hospital at Westmead, Westmead, NSW, Australia The Children's Medical Research Institute, Westmead, NSW, Australia School of Medicine, Faculty of Health and Medicine, The University of Sydney, Sydney, NSW, Australia ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology, University of South Australia, Adelaide, SA, Australia Australian Genomics, Parkville, VIC, Australia Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia Western Haematology and Oncology Clinics, West Perth, WA, Australia Princess M�xima Center for Pediatric Oncology, Utrecht, Netherlands UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia | - |
dc.identifier.doi | 10.1182/bloodadvances.2023012331 | - |
dc.identifier.department | Liverpool Hospital, Department of Haematology | - |
dc.type.studyortrial | Letter | - |
dc.identifier.journaltitle | Blood Advances | - |
Appears in Collections: | Liverpool Hospital |
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