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1دورية أكاديمية
المؤلفون: Nadja Louw, Nadia Carstens, Zané Lombard, for DDD-Africa as members of the H3Africa Consortium
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: copy number variation, exome sequencing, low-middle-income countries, variant calling, rare disease, monogenic disorders, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1277784/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Emma K. Wiener, James Buchanan, Amanda Krause, Zané Lombard, for the DDD-Africa Study, as members of the H3Africa Consortium
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Low- and middle-income countries, Genetic services, Exome sequencing, Developmental disorders, Diagnostic guidelines, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Fiona Baine-Savanhu, Shelley Macaulay, Nadja Louw, Alanna Bollweg, Kaitlyn Flynn, Mhlekazi Molatoli, Patracia Nevondwe, Heather Seymour, Nadia Carstens, Amanda Krause, Zané Lombard
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: developmental disorder, intellectual disability, genetic disorder, genetic testing, Africa, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1137922/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré, as members of the Rare Disease Working Group of the H3Africa Consortium
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
مصطلحات موضوعية: Data sharing, NGS interpretation, Diversity, Reference database, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Fiona B. Tamburini, Dylan Maghini, Ovokeraye H. Oduaran, Ryan Brewster, Michaella R. Hulley, Venesa Sahibdeen, Shane A. Norris, Stephen Tollman, Kathleen Kahn, Ryan G. Wagner, Alisha N. Wade, Floidy Wafawanaka, F. Xavier Gómez-Olivé, Rhian Twine, Zané Lombard, H3Africa AWI-Gen Collaborative Centre, Scott Hazelhurst, Ami S. Bhatt
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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6دورية أكاديمية
المؤلفون: Siphiwe N Dlamini, Zané Lombard, Lisa K Micklesfield, Nigel Crowther, Shane A Norris, Tracy Snyman, Andrew A Crawford, Brian R Walker, Julia H Goedecke
المصدر: Endocrine Connections, Vol 10, Iss 8, Pp 873-884 (2021)
مصطلحات موضوعية: glucocorticoids, metabolic syndrome, cardiometabolic risk factors, cortisol, corticosterone, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://ec.bioscientifica.com/view/journals/ec/10/8/EC-21-0195.xmlTest; https://doaj.org/toc/2049-3614Test
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7دورية أكاديمية
المؤلفون: Kaitlyn Flynn, Candice Feben, Lindiwe Lamola, Nadia Carstens, Amanda Krause, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium
المصدر: Clinical Case Reports, Vol 9, Iss 4, Pp 2144-2148 (2021)
مصطلحات موضوعية: CDC42, macrothrombocytopenia, Takenouchi–Kosaki syndrome, whole‐exome sequencing, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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8دورية أكاديمية
المؤلفون: Siphiwe N. Dlamini, Ananyo Choudhury, Michèle Ramsay, Lisa K. Micklesfield, Shane A. Norris, Nigel J. Crowther, Andrew A. Crawford, Brian R. Walker, Zané Lombard, Julia H. Goedecke
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: SERPINA6, SERPINA1, CYP17A1, metabolic syndrome, blood pressure, lipids, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.687335/fullTest; https://doaj.org/toc/1664-8021Test
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9دورية أكاديمية
المؤلفون: Jorge E. B. da Rocha, Zané Lombard, Michèle Ramsay
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: pharmacogenomics, DPYD, fluoropyrimidine drugs, cancer, precision medicine, Africa, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.626954/fullTest; https://doaj.org/toc/1664-8021Test
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10دورية أكاديمية
المؤلفون: Richard J. Munthali, Venesa Sahibdeen, Juliana Kagura, Liesl M. Hendry, Shane A. Norris, Ken K. Ong, Felix R. Day, Zané Lombard
المصدر: Genes & Nutrition, Vol 13, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: Childhood adiposity, Obesity, Genetic risk score, Mediation analysis, Weight gain, Body mass index, Nutrition. Foods and food supply, TX341-641, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12263-018-0613-7Test; https://doaj.org/toc/1555-8932Test; https://doaj.org/toc/1865-3499Test