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1دورية 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; Volume 14; Issue 7; Pages: 1403
مصطلحات موضوعية: spinal muscular atrophy, carrier frequency, silent carrier, reproductive carrier screening
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14071403Test
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2
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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3دورية أكاديمية
المؤلفون: Peter J Taylor, Grant A Betts, Sarah Maroulis, Christian Gilissen, Robyn L Pedersen, David R Mowat, Heather M Johnston, Michael F Buckley
المصدر: PLoS ONE, Vol 5, Iss 1, p e8803 (2010)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC2808359?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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4
المؤلفون: David R. Mowat, Taru Tukiainen, Himanshu Joshi, Ben Weisburd, Gina L. O'Grady, Elise Valkanas, Fathimath Faiz, Adam Bournazos, Simon Sadedin, Rebecca Gooding, Frances J. Evesson, Katherine R. Neas, Amanda Charlton, Hugo Sampaio, Michel Tchan, Kristi J. Jones, Monkol Lek, Nicole Graf, Jamie L. Marshall, Mark R. Davis, Charles Chan, Min-Xia Wang, Beryl B. Cummings, Daniel G. MacArthur, Alan Ma, Leigh B. Waddell, Samantha J. Bryen, Susan Arbuckle, Emily C. Oates, Sandra T. Cooper, Nigel F. Clarke, Sarah A. Sandaradura, Diane Kenwright, Michelle A. Farrar
المصدر: Neurology Genetics. 7:e554
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Messenger RNA, Massive parallel sequencing, biology, RNA, medicine.disease, Complementary DNA, RNA splicing, biology.protein, medicine, Neurology (clinical), Muscular dystrophy, Dystrophin, Exome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::84786fa6905974c6d00e8b619bc4f069Test
https://doi.org/10.1212/nxg.0000000000000554Test