المؤلفون: Regier, Dean A., Loewen, Rosalie, Chan, Brandon, Ehman, Morgan, Pollard, Samantha, Friedman, Jan M., Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Race, Simone, Elliott, Alison M., Dragojlovic, Nick, Lynd, Larry D., Weymann, Deirdre

المساهمون: Genome British Columbia

المصدر: Genetics in Medicine ; volume 26, issue 4, page 101069 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2024.101069Test
https://api.elsevier.com/content/article/PII:S1098360024000029?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000029?httpAccept=text/plainTest

المؤلفون: Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

المصدر: Oppermann , H , Marcos-Grañeda , E , Weiss , L A , Gurnett , C A , Jelsig , A M , Vineke , S H , Isidor , B , Mercier , S , Magnussen , K , Zacher , P , Hashim , M , Pagnamenta , A T , Race , S , Srivastava , S , Frazier , Z , Maiwald , R , Pergande , M , Milani , D , Rinelli , M , Levy , J , Krey , I , Fontana , P , Lonardo , F , Riley , ....

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efeTest

الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efeTest
https://findresearcher.sdu.dk/ws/files/245118658/s41431_023_01445_2.pdfTest

المؤلفون: Macfadyen, Leah P., Austin, Jehannine, Cao, Ping, Cheng, John, Cremin, Carol, Duong, Linda, Elliott, Alison M., Guimond, Colleen, Lim, Shur, Race, Simone, Rajan‐Babu, Indhu‐Shree, Richardson, Anastasia, Wainstein, Tasha, Zahir, Farah, Birch, Patricia H.

المصدر: Journal of Genetic Counseling ; volume 32, issue 6, page 1280-1287 ; ISSN 1059-7700 1573-3599

الإتاحة: https://doi.org/10.1002/jgc4.1737Test

المؤلفون: Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M.S., Ruivenkamp, Claudia, Suk, Eun Kyung, Bartolomaeus, Tobias, Merkenschlager, Andreas, Koboldt, Daniel, Bartholomew, Dennis, Stegmann, Alexander P.A., Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B.A., Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nils, Bartels, Enrika, Hamm, J. Austin, Putnam, Abbey M., Person, Richard, Abou Jamra, Rami, Oppermann, Henry

المصدر: Rahimi , M J , Urban , N , Wegler , M , Sticht , H , Schaefer , M , Popp , B , Gaunitz , F , Morleo , M , Nigro , V , Maitz , S , Mancini , G M S , Ruivenkamp , C , Suk , E K , Bartolomaeus , T , Merkenschlager , A , Koboldt , D , Bartholomew , D , Stegmann , A P A , Sinnema , M , Duynisveld , I , Salvarinova , R , Race , S , de Vries , B B ....

العلاقة: https://pure.eur.nl/en/publications/5df7e1bb-41a3-4c8b-aead-ce0282a22637Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.009Test
https://pure.eur.nl/en/publications/5df7e1bb-41a3-4c8b-aead-ce0282a22637Test
http://www.scopus.com/inward/record.url?scp=85129366875&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118097Test/

المؤلفون: Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill

المصدر: Human Genetics and Genomics Advances ; volume 3, issue 3, page 100108 ; ISSN 2666-2477

مصطلحات موضوعية: Genetics (clinical), Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100108Test
https://api.elsevier.com/content/article/PII:S2666247722000240?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247722000240?httpAccept=text/plainTest

المؤلفون: Dhaliwal, Jasleen, Qiao, Ying, Calli, Kristina, Martell, Sally, Race, Simone, Chijiwa, Chieko, Glodjo, Armansa, Jones, Steven, Rajcan-Separovic, Evica, Scherer, Stephen W., Lewis, Suzanne

وصف الملف: application/pdf

العلاقة: Genes 12 (7): 1053 (2021); http://hdl.handle.net/1807/106817Test

الإتاحة: https://doi.org/10.3390/genes12071053Test
http://hdl.handle.net/1807/106817Test

المؤلفون: Fischer-Zirnsak, Björn, Segebrecht, Lara, Schubach, Max, Charles, Perrine, Alderman, Emily, Brown, Kathleen, Cadieux-Dion, Maxime, Cartwright, Tracy, Chen, Yanmin, Costin, Carrie, Fehr, Sarah, Fitzgerald, Keely M., Fleming, Emily, Foss, Kimberly, Ha, Thoa, Hildebrand, Gabriele, Horn, Denise, Liu, Shuxi, Marco, Elysa J., McDonald, Marie, McWalter, Kirsty, Race, Simone, Rush, Eric T., Si, Yue, Saunders, Carol, Slavotinek, Anne, Stockler-Ipsiroglu, Sylvia, Telegrafi, Aida, Thiffault, Isabelle, Torti, Erin, Tsai, Anne Chun-hui, Wang, Xin, Zafar, Muhammad, Keren, Boris, Kornak, Uwe, Boerkoel, Cornelius F., Mirzaa, Ghayda, Ehmke, Nadja

المساهمون: Mining for Miracles through BC Children’s Foundation, Provincial Health Services Authority, Genome British Columbia, University of British Columbia, Nachwuchskommission of the Charité Berlin, National Institute of Neurological Disorders and Stroke

المصدر: The American Journal of Human Genetics ; volume 105, issue 3, page 631-639 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.07.002Test
https://api.elsevier.com/content/article/PII:S0002929719302654?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719302654?httpAccept=text/plainTest

المؤلفون: Kügeler-Race, Simone

المصدر: Mystik unterwegs ; page 25-58

الإتاحة: https://doi.org/10.2307/j.ctv2tjd6vv.4Test

المؤلفون: Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.

المصدر: Genetics in Medicine ; volume 19, issue 1, page 45-52 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/gim.2016.53Test
http://www.nature.com/articles/gim201653.pdfTest
http://www.nature.com/articles/gim201653Test
https://api.elsevier.com/content/article/PII:S1098360021015306?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021015306?httpAccept=text/plainTest

المؤلفون: Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

المصدر: European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-10, 10p