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Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

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作者单位: Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, NSW, Australia. edwin.kirk@health.nsw.gov.au. [1] School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia. edwin.kirk@health.nsw.gov.au. [2] NSW Health Pathology East Genomics Laboratory, Randwick, NSW, Australia. edwin.kirk@health.nsw.gov.au. [3] Centre for Medical Research, The University of Western Australia, Nedlands, WA, Australia. [4] Harry Perkins Institute for Medical Research, Nedlands, WA, Australia. [5] Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, NSW, Australia. [6] Australian Genomics Health Alliance, Melbourne, VIC, Australia. [7] Department of Clinical Genetics, Children's Hospital Westmead, Westmead, NSW, Australia. [8] SA Pathology, Adelaide, SA, Australia. [9] Repromed, Dulwich, SA, Australia. [10] Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia. [11] School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia. [12] Genetic Services of Western Australia, Perth, WA, Australia. [13] NSW Health Pathology East Genomics Laboratory, Randwick, NSW, Australia. [14] Neuroscience Research Australia, Randwick, NSW, Australia. [15] Murdoch Children's Research Institute, Parkville, VIC, Australia. [16] Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. [17] Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia. [18] Eye Genetics Research Unit, Children's Medical Research Institute, Children's Hospital Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia. [19] Disciplines of Genomic Medicine, and Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia. [20] South Australian Clinical Genetics Service, Royal Adelaide Hospital, Adelaide, SA, Australia. [21] Women's and Children's Hospital, Adelaide, SA, Australia. [22] Discipline of Genomic Medicine, University of Sydney, Sydney, NSW, Australia. [23] School of Medicine, The University of Western Australia, Perth, WA, Australia. [24] PathWest Laboratory Medicine, Perth, WA, Australia. [25] . [26] Victorian Clinical Genetics Services, Parkville, VIC, Australia. [27] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia. [28] School of Medicine, University of Queensland, Brisbane, QLD, Australia. [29] The University of Sydney, Faculty of Medicine & Health, Sydney School of Public Health, Sydney Health Ethics, Sydney, Australia. [30]
DOI 10.1038/s41431-020-0685-x
PMID 32678339
发布时间 2022-01-02
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European journal of human genetics : EJHG

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