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1دورية أكاديمية
المؤلفون: Cline, Melissa S, Liao, Rachel G, Parsons, Michael T, Paten, Benedict, Alquaddoomi, Faisal, Antoniou, Antonis, Baxter, Samantha, Brody, Larry, Cook-Deegan, Robert, Coffin, Amy, Couch, Fergus J, Craft, Brian, Currie, Robert, Dlott, Chloe C, Dolman, Lena, den Dunnen, Johan T, Dyke, Stephanie OM, Domchek, Susan M, Easton, Douglas, Fischmann, Zachary, Foulkes, William D, Garber, Judy, Goldgar, David, Goldman, Mary J, Goodhand, Peter, Harrison, Steven, Haussler, David, Kato, Kazuto, Knoppers, Bartha, Markello, Charles, Nussbaum, Robert, Offit, Kenneth, Plon, Sharon E, Rashbass, Jem, Rehm, Heidi L, Robson, Mark, Rubinstein, Wendy S, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Thorogood, Adrian, Zhang, Can, Zimmermann, Marc, BRCA Challenge Authors, Burn, John, Chanock, Stephen, Rätsch, Gunnar, Spurdle, Amanda B
المصدر: PLoS genetics. 14(12)
مصطلحات موضوعية: BRCA Challenge Authors, Humans, Breast Neoplasms, Ovarian Neoplasms, Genetic Predisposition to Disease, Risk Factors, Information Dissemination, Gene Frequency, Phenotype, Penetrance, Mutation, Alleles, Genes, BRCA1, Genes, BRCA2, Databases, Genetic, Female, Male, Genetic Variation, Breast Cancer, Cancer, Genetics, Human Genome, 2.6 Resources and infrastructure (aetiology), Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6x747309Test
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2دورية أكاديمية
المؤلفون: Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J, Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Keckarević-Marković, Milica, Lildballe, Dorte L, Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M, Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M, Haanpää, Maria K, Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I, Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T, Laner, Andreas
العلاقة: European journal of human genetics : EJHG; https://biore.bio.bg.ac.rs/handle/123456789/7205Test; 2-s2.0-85193793451; https://api.elsevier.com/content/abstract/scopus_id/85193793451Test
الإتاحة: https://doi.org/10.1038/s41431-024-01617-8Test
https://biore.bio.bg.ac.rs/handle/123456789/7205Test
https://api.elsevier.com/content/abstract/scopus_id/85193793451Test -
3مؤتمر
المؤلفون: BECKERS, Pablo, CABERG, Jean-Hubert, DIDEBERG, Vinciane, Dangouloff, Tamara, den Dunnen, Johan T., BOURS, Vincent, Servais, Laurent, BOEMER, François
مصطلحات موضوعية: Human health sciences :: Laboratory medicine & medical technology, Sciences de la santé humaine :: Médecine de laboratoire & technologie médicale
جغرافية الموضوع: international
العلاقة: European Human Genetics Conference - ESHG (AUGUST 28–31, 2021)
الوصول الحر: https://orbi.uliege.be/handle/2268/262646Test
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4دورية أكاديمية
المؤلفون: Philippakis, Anthony A, Azzariti, Danielle R, Beltran, Sergi, Brookes, Anthony J, Brownstein, Catherine A, Brudno, Michael, Brunner, Han G, Buske, Orion J, Carey, Knox, Doll, Cassie, Dumitriu, Sergiu, Dyke, Stephanie OM, den Dunnen, Johan T, Firth, Helen V, Gibbs, Richard A, Girdea, Marta, Gonzalez, Michael, Haendel, Melissa A, Hamosh, Ada, Holm, Ingrid A, Huang, Lijia, Hurles, Matthew E, Hutton, Ben, Krier, Joel B, Misyura, Andriy, Mungall, Christopher J, Paschall, Justin, Paten, Benedict, Robinson, Peter N, Schiettecatte, François, Sobreira, Nara L, Swaminathan, Ganesh J, Taschner, Peter E, Terry, Sharon F, Washington, Nicole L, Züchner, Stephan, Boycott, Kym M, Rehm, Heidi L
المصدر: Human Mutation. 36(10)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Database Management Systems, Databases, Genetic, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Information Dissemination, Rare Diseases, Software, matchmaking, rare disease, genomic API, gene discovery, Matchmaker Exchange, GA4GH, IRDiRC, Clinical Sciences, Genetics & Heredity, Clinical sciences
الوصول الحر: https://escholarship.org/uc/item/2mv1v458Test
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5كتاب
المؤلفون: Alves, Ana Catarina, Austin-Tse, Christina Anne, Bourbon, Mafalda, Carvalho, Marcelo A., Ceyhan-Birsoy, Ozge, Charames, George S., Chora, Joana Rita, Colombo, Mara, Cruz, Xavier de la, den Dunnen, Johan T., de Wind, Niels, Diez, Orland, Elias, Anna B.R., Evans, D Gareth, Feliubadaló, Lidia, Fernandes, Vanessa C., Fokkema, Ivo F.A.C., Fortuno, Cristina, Garrett, Alice, Gasparini, Paolo, Girotto, Giorgia, González-Neira, Anna, Gripp, Karen W., Gutiérrez-Enríquez, Sara, Harrison, Steven M., Hoya, Miguel de la, Ingles, Jodie, Johnson, Renee, Lerner-Ellis, Jordan, Levy, Harvey, Lázaro, Conxi, Mason-Suares, Heather, Medeiros, Ana Margarida, Mester, Jessica L., Moles-Fernández, Alejandro, Monteiro, Alvaro N.A., Morgan, Anna, Nepomuceno, Thales C., Núñez-Torres, Rocío, Özkan, Selen, Padilla, Natàlia, Parsons, Michael T., Pesaran, Tina F., Pineda, Marta, Radice, Paolo, Rajabi, Farrah, Richardson, Ebony, Sabatini, Peter, Sacharow, Stephanie, Spurdle, Amanda
المصدر: Clinical DNA Variant Interpretation ; page xvii-xxi
الإتاحة: https://doi.org/10.1016/b978-0-12-820519-8.01002-4Test
https://api.elsevier.com/content/article/PII:B9780128205198010024?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128205198010024?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: van der Sluijs, Pleuntje J., Alders, Mariëlle, Dingemans, Alexander J.M., Parbhoo, Kareesma, van Bon, Bregje W., Dempsey, Jennifer C., Doherty, Dan, Den Dunnen, Johan T., Gerkes, Erica H., Milller, Ilana M., Moortgat, Stephanie, Regier, Debra S., Ruivenkamp, Claudia A.L., Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E., Vincent-Delorme, Catherine, de Vries, Bert B.A., Sadikovic, Bekim, Hickey, Scott E., Rosenfeld, Jill A., Maystadt, Isabelle, Santen, Gijs W.E.
المصدر: van der Sluijs , P J , Alders , M , Dingemans , A J M , Parbhoo , K , van Bon , B W , Dempsey , J C , Doherty , D , Den Dunnen , J T , Gerkes , E H , Milller , I M , Moortgat , S , Regier , D S , Ruivenkamp , C A L , Schmalz , B , Smol , T , Stuurman , K E , Vincent-Delorme , C , de Vries , B B A , Sadikovic , B , Hickey , S E ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3390/genes12081275Test
https://pure.eur.nl/en/publications/2f02c599-f577-4093-a929-2db3ebd1ecacTest
https://pure.eur.nl/ws/files/42112420/A_Case_Series_of_Familial_ARID1B_Variants_Illustrating_Variable_Expression_and_Suggestions_to_Update_the_ACMG_Criteria.pdfTest
http://www.scopus.com/inward/record.url?scp=85113286631&partnerID=8YFLogxKTest -
7دورية أكاديمية
المؤلفون: Tobias, Edward S., Avram, Elena, Calapod, Patricia, Cordier, Christophe, den Dunnen, Johan T., Ding, Can, Dolzan, Vita, Houge, Sofia Douzgou, Lynch, Sally Ann, O’Byrne, James, Patsalis, Philippos, Prokopenko, Inga, Soares, Celia A., Tobias, Adam P., Newman, William G.
وصف الملف: text
العلاقة: http://eprints.gla.ac.uk/252327/1/252327.pdfTest; Tobias, E. S. et al. (2021) The role of the European Society of Human Genetics in delivering genomic education. Frontiers in Genetics , 12, 693952. (doi:10.3389/fgene.2021.693952 ) (PMID:34539735) (PMCID:PMC8446627)
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8دورية أكاديمية
المؤلفون: Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T.
المصدر: European Journal of Human Genetics ; volume 30, issue 2, page 150-159 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/s41431-021-00903-zTest
https://www.nature.com/articles/s41431-021-00903-z.pdfTest
https://www.nature.com/articles/s41431-021-00903-zTest -
9دورية أكاديمية
المؤلفون: Guehlouz, Khadidja, Foulonneau, Thomas, Amati-Bonneau, Patrizia, Charif, Majida, Colin, Estelle, Bris, Céline, Desquiret-Dumas, Valérie, Milea, Dan, Gohier, Philippe, Procaccio, Vincent, Bonneau, Dominique, den Dunnen, Johan T., Lenaers, Guy, Reynier, Pascal, Ferré, Marc
المصدر: Scientific Data ; volume 8, issue 1 ; ISSN 2052-4463
مصطلحات موضوعية: Library and Information Sciences, Statistics, Probability and Uncertainty, Computer Science Applications, Education, Information Systems, Statistics and Probability
الإتاحة: https://doi.org/10.1038/s41597-021-00984-xTest
https://www.nature.com/articles/s41597-021-00984-x.pdfTest
https://www.nature.com/articles/s41597-021-00984-xTest -
10دورية أكاديمية
المؤلفون: Fokkema, Ivo F.A.C., Kroon, Mark, López Hernández, Julia A., Asscheman, Daan, Lugtenburg, Ivar, Hoogenboom, Jerry, den Dunnen, Johan T.
المصدر: European Journal of Human Genetics ; volume 29, issue 12, page 1796-1803 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/s41431-021-00959-xTest
https://www.nature.com/articles/s41431-021-00959-x.pdfTest
https://www.nature.com/articles/s41431-021-00959-xTest