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1دورية أكاديمية
المؤلفون: Mahdi Moradi Marjaneh, Edwin P Kirk, Ralph Patrick, Dimuthu Alankarage, David T Humphreys, Gonzalo Del Monte-Nieto, Paola Cornejo-Paramo, Vaibhao Janbandhu, Tram B Doan, Sally L Dunwoodie, Emily S Wong, Chris Moran, Ian CA Martin, Peter C Thomson, Richard P Harvey
المصدر: eLife, Vol 12 (2023)
مصطلحات موضوعية: quantitative trait loci, genomics, cardiac congenital defects, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D’Silva
المصدر: Genes, Vol 14, Iss 7, p 1403 (2023)
مصطلحات موضوعية: spinal muscular atrophy, carrier frequency, silent carrier, reproductive carrier screening, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Mahdi Moradi Marjaneh, Edwin P Kirk, Maximilian G Posch, Cemil Ozcelik, Felix Berger, Roland Hetzer, Robyn Otway, Tanya L Butler, Gillian M Blue, Lyn R Griffiths, Diane Fatkin, Jeremy J Martinson, David S Winlaw, Michael P Feneley, Richard P Harvey
المصدر: PLoS ONE, Vol 6, Iss 6, p e20711 (2011)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3108965?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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4دورية أكاديمية
المؤلفون: Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki, The Mackenzie’s Mission Study Team The Mackenzie’s Mission Study Team
المصدر: Journal of Personalized Medicine; Volume 12; Issue 11; Pages: 1781
مصطلحات موضوعية: reproductive genetic carrier screening, implementation science, bioethics, health economics, psychosocial outcomes
وصف الملف: application/pdf
العلاقة: Omics/Informatics; https://dx.doi.org/10.3390/jpm12111781Test
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5
المصدر: European Journal of Human Genetics. 31:548-554
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3281b2885f0312d472a60d380c0d625Test
https://doi.org/10.1038/s41431-022-01239-yTest -
6
المصدر: Prenatal Diagnosis. 42:1658-1666
مصطلحات موضوعية: Genetic Carrier Screening, Humans, Obstetrics and Gynecology, 1103 Clinical Sciences, 1114 Paediatrics and Reproductive Medicine, Deafness, Obstetrics & Reproductive Medicine, Child, Genetics (clinical)
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fc7c9d0b00f34893775aa0c875a5415Test
https://doi.org/10.1002/pd.6253Test -
7
المؤلفون: D’Silva, Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene
المصدر: Genes; Volume 14; Issue 7; Pages: 1403
مصطلحات موضوعية: spinal muscular atrophy, carrier frequency, silent carrier, reproductive carrier screening
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::5da6b9f521196378f4b041c8e7592f83Test
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8
المصدر: Genetics in Medicine. 24:1803-1813
مصطلحات موضوعية: Pregnancy, Prenatal Diagnosis, Reproduction, Humans, Female, Genetic Testing, Deafness, Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5977e843edb59e432e6eb3c9a63caeTest
https://doi.org/10.1016/j.gim.2022.05.005Test -
9
المؤلفون: Gary F. Sholler, Sally L. Dunwoodie, Edwin P. Kirk, Annabelle Enriquez, Jonathan Mervis, Gillian M. Blue, David S. Winlaw, Janine Smith, Ansley M. Morrish
المصدر: Trends in Cardiovascular Medicine. 32:311-319
مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Genetic counseling, Genetic Counseling, Genomics, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Genetic Testing, 030212 general & internal medicine, Child, Intensive care medicine, Referral and Consultation, Genetic testing, medicine.diagnostic_test, business.industry, medicine.disease, Medical genetics, Health information, Personalized medicine, Cardiology and Cardiovascular Medicine, business, Psychosocial
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89cc1712710a5f82de602f4d1a47c61fTest
https://doi.org/10.1016/j.tcm.2021.04.011Test -
10
المؤلفون: Sarah Righetti, Lisa Dive, Alison D. Archibald, Lucinda Freeman, Belinda McClaren, Anaita Kanga-Parabia, Martin B. Delatycki, Nigel G. Laing, Edwin P. Kirk, Ainsley J. Newson, Kristine Barlow-Stewart, Stephanie Best, Kirsten Boggs, Camron Ebzery, Samantha Edwards, Zoe Fehlberg, Lara Fitzgerald, Jane Halliday, Katrina Harrison, Jillian Kennedy, Janet Long, John Massie, Erin Tutty, Richard Allcock, Jade Caruana, Rachael Casella, Mark Davis, Tristan Hardy, Sarah Jelenich, Sebastian Lunke, Julie McGaughran, Gina Ravenscroft
المصدر: Genetics in Medicine. 24:1158-1161
مصطلحات موضوعية: Heredity, Pregnancy, Genetics, Medical, Humans, Mass Screening, Female, Genetic Testing, Genomics, United States, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce2f75e940f9d150668787071ed8a19Test
https://doi.org/10.1016/j.gim.2022.01.007Test