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A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.

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Title: A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.
Authors: Mudau MM; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. maria.mudau@nhls.ac.za., Seymour H; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Nevondwe P; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Kerr R; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Spencer C; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Feben C; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Lombard Z; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Honey E; Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria, South Africa., Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Carstens N; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Genomics Platform, South African Medical Research Council, Cape Town, South Africa.
Source: Journal of community genetics [J Community Genet] 2024 Feb; Vol. 15 (1), pp. 39-48. Date of Electronic Publication: 2023 Oct 10.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.
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  Data: <searchLink fieldCode="AU" term="%22Mudau+MM%22">Mudau MM</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. maria.mudau@nhls.ac.za.<br /><searchLink fieldCode="AU" term="%22Seymour+H%22">Seymour H</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Nevondwe+P%22">Nevondwe P</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Kerr+R%22">Kerr R</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Spencer+C%22">Spencer C</searchLink>; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.<br /><searchLink fieldCode="AU" term="%22Feben+C%22">Feben C</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Lombard+Z%22">Lombard Z</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Honey+E%22">Honey E</searchLink>; Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria, South Africa.<br /><searchLink fieldCode="AU" term="%22Krause+A%22">Krause A</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Carstens+N%22">Carstens N</searchLink>; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Genomics Platform, South African Medical Research Council, Cape Town, South Africa.
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  Data: <searchLink fieldCode="JN" term="%22101551501%22">Journal of community genetics</searchLink> [J Community Genet] 2024 Feb; Vol. 15 (1), pp. 39-48. <i>Date of Electronic Publication: </i>2023 Oct 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101551501 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1868-310X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221868310X%22">1868310X </searchLink><i>NLM ISO Abbreviation: </i>J Community Genet <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37815686
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        Value: 10.1007/s12687-023-00674-8
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        Text: English
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              Text: 2024 Feb
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