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1دورية أكاديمية
المؤلفون: Tara Ahanian, Philip Curman, Ivone U. S. Leong, Kerstin Brismar, Etty Bachar-Wikstrom, Martin Cederlöf, Jakob D. Wikstrom
المصدر: Diabetology & Metabolic Syndrome, Vol 12, Iss 1, Pp 1-4 (2020)
مصطلحات موضوعية: Darier disease, Diabetes, Endoplasmic reticulum, Calcium, ER stress, Glucose, Nutritional diseases. Deficiency diseases, RC620-627
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1758-5996Test
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2دورية أكاديمية
المؤلفون: Ivone U. S. Leong, Jonathan R. Skinner, Donald R. Love
المصدر: Medical Sciences, Vol 2, Iss 2, Pp 98-126 (2014)
مصطلحات موضوعية: sudden cardiac death, massively parallel sequencing, genetic screening, diagnostic, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ivone U. S. Leong, Alexander Stuckey, Daniele Belluoccio, Vicky Fan, Jonathan R. Skinner, Debra O. Prosser, Donald. R. Love
المصدر: Medical Sciences, Vol 5, Iss 4, p 22 (2017)
مصطلحات موضوعية: sudden cardiac death, massively parallel sequencing, next generation sequencing, cardiac gene panel, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المصدر: PLoS ONE, Vol 12, Iss 10, p e0186356 (2017)
العلاقة: http://europepmc.org/articles/PMC5640244?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/1085eb6275b74caebce6324abe20f569Test
الإتاحة: https://doi.org/10.1371/journal.pone.0186356Test
https://doaj.org/article/1085eb6275b74caebce6324abe20f569Test -
5
المؤلفون: Arianna Tucci, Mark J. Caulfield, Eik Haraldsdottir, Damian Smedley, Kristina Ibáñez, Sarah Leigh, Olivia Niblock, Antonio Rueda Martin, Ivone U. S. Leong, Anna de Burca, Eleanor Williams, Rebecca E. Foulger, Richard H Scott, Ellen M. McDonagh, Emma L. Baple, Louise C. Daugherty, Katherine R. Smith, Ellen Thomas, D. Kasperaviciute, Augusto Rendon, Oleg Gerasimenko, Helen Brittain
المصدر: Nature Genetics. 51:1560-1565
مصطلحات موضوعية: Crowdsource, Knowledge base, business.industry, Gene panel, Genetics, MEDLINE, Causation, Biology, business, Crowdsourcing, Data science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c7fe12a7e1e934ed3d41e56fd9d4eecfTest
https://doi.org/10.1038/s41588-019-0528-2Test -
6دورية أكاديمية
المؤلفون: Sarah L. Nickerson, Renate Marquis-Nicholson, Karen Claxton, Fern Ashton, Ivone U. S. Leong, Debra O. Prosser, Jennifer M. Love, Alice M. George, Graham Taylor, Callum Wilson, R. J. McKinlay Gardner, Donald R. Love
المصدر: Microarrays, Vol 4, Iss 4, Pp 490-502 (2015)
مصطلحات موضوعية: SACS, ARSACS, sacsin, autosomal recessive ataxia, microarray, exome sequencing, homozygosity, consanguinity, Biochemistry, QD415-436
العلاقة: http://www.mdpi.com/2076-3905/4/4/490Test; https://doaj.org/toc/2076-3905Test; https://doaj.org/article/520e49180ea54c40a54a8bd62c46d4fbTest
الإتاحة: https://doi.org/10.3390/microarrays4040490Test
https://doaj.org/article/520e49180ea54c40a54a8bd62c46d4fbTest -
7دورية أكاديمية
المؤلفون: Ivone U. S. Leong, Jonathan R. Skinner, Donald R. Love
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: sudden cardiac death, massively parallel sequencing, genetic screening, diagnostic
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8
المؤلفون: Arina Puzriakova, Charlotte Rodwell, Kelly Radtke, Alison J. Coffey, Fiona Cunningham, Angharad M. Roberts, Sarah Leigh, Joanna S. Amberger, Erin Rooney Riggs, Ana Rath, Christina Austin Tse, Michael Yates, Marina T. DiStefano, Ada Hamosh, James S. Ware, Annie Olry, Jennifer L. Goldstein, Carol Bocchini, Eleanor Williams, Catherine E. Snow, Christa Lese Martin, Scott R. Goehringer, Heidi L. Rehm, Matthew E. Hurles, David R. FitzPatrick, Ivone U. S. Leong, Elspeth A. Bruford, Ellen M. McDonagh, Jackie Tahiliani, Helen V. Firth, Zornitza Stark, Caroline F. Wright, Ewan Birney, Jonathan S. Berg, Erin M. Ramos, Marie Balzotti, Heather Collins
المصدر: Molecular Genetics and Metabolism. 132:S224-S225
مصطلحات موضوعية: World Wide Web, Endocrinology, Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b37573c9f691c96fec532f4214337271Test
https://doi.org/10.1016/s1096-7192Test(21)00430-3 -
9
المؤلفون: Tara Ahanian, Etty Bachar-Wikstrom, Henrik Larsson, Jakob D. Wikstrom, Philip Curman, Martin Cederlöf, Ivone U. S. Leong
المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020)مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heart disease, Epidemiology, Population, lcsh:Medicine, Disease, 030204 cardiovascular system & hematology, Article, Sarcoplasmic Reticulum Calcium-Transporting ATPases, 030207 dermatology & venereal diseases, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Darier Disease, Risk Factors, Internal medicine, ATP2A2, Genetics research, Medicine, Humans, Myocardial infarction, education, lcsh:Science, Aged, Heart Failure, education.field_of_study, Multidisciplinary, business.industry, lcsh:R, Middle Aged, medicine.disease, Lipids, Skin diseases, Cross-Sectional Studies, Heart failure, Case-Control Studies, Mutation, Cardiology, lcsh:Q, Female, business, Biomarkers, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f795904031c5594a252f38ae7e78e0c3Test
http://europepmc.org/articles/PMC7181854Test -
10
المؤلفون: Antonio Rueda, Martin, Eleanor, Williams, Rebecca E, Foulger, Sarah, Leigh, Louise C, Daugherty, Olivia, Niblock, Ivone U S, Leong, Katherine R, Smith, Oleg, Gerasimenko, Eik, Haraldsdottir, Ellen, Thomas, Richard H, Scott, Emma, Baple, Arianna, Tucci, Helen, Brittain, Anna, de Burca, Kristina, Ibañez, Dalia, Kasperaviciute, Damian, Smedley, Mark, Caulfield, Augusto, Rendon, Ellen M, McDonagh
المصدر: Nature genetics. 51(11)
مصطلحات موضوعية: Genetic Markers, Consensus, Rare Diseases, England, Computational Biology, Crowdsourcing, High-Throughput Nucleotide Sequencing, Humans, Genetic Testing, Expert Testimony, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::150527918313b46f5ae498d488f00bb5Test
https://pubmed.ncbi.nlm.nih.gov/31676867Test