المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta

المساهمون: Agence Nationale pour la Recherche/E-rare Joint-Transnational-Call 2011, National Human Genome Research Institute, National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program, National Eye Institute, NIH, Estonian Research Council

المصدر: The American Journal of Human Genetics ; volume 102, issue 5, page 744-759 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.02.021Test
https://api.elsevier.com/content/article/PII:S0002929718300892?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929718300892?httpAccept=text/plainTest

المؤلفون: Halgren, Christina, Nielsen, Nete M., Nazaryan-Petersen, Lusine, Silahtaroglu, Asli, Collins, Ryan L., Lowther, Chelsea, Kjaergaard, Susanne, Frisch, Morten, Kirchhoff, Maria, Brøndum-Nielsen, Karen, Lind-Thomsen, Allan, Mang, Yuan, El-Schich, Zahra, Boring, Claire A., Mehrjouy, Mana M., Jensen, Peter K.A., Fagerberg, Christina, Krogh, Lotte N., Hansen, Jan, Bryndorf, Thue, Hansen, Claus, Talkowski, Michael E., Bak, Mads, Tommerup, Niels, Bache, Iben

المساهمون: Danish National Research Foundation, The Lundbeck Foundation, National Institutes of Health, March of Dimes

المصدر: The American Journal of Human Genetics ; volume 102, issue 6, page 1090-1103 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.005Test
https://api.elsevier.com/content/article/PII:S000292971830137X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292971830137X?httpAccept=text/plainTest

المؤلفون: Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe

المساهمون: European Commission, European Research Council, Telethon Foundation, Associazione Italiana per la Ricerca sul Cancro, Regione Lombardia, Umberto Veronesi Foundation, Italian Ministry of Health, Japan Agency for Medical Research and Development, Australian National Health and Medical Research Council, Dutch Organization for Health Research and Development

المصدر: The American Journal of Human Genetics ; volume 100, issue 6, page 907-925 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.05.006Test
https://api.elsevier.com/content/article/PII:S0002929717301933?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929717301933?httpAccept=text/plainTest

المؤلفون: Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane

المصدر: The American Journal of Human Genetics ; volume 93, issue 1, page 124-131 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.05.007Test
https://api.elsevier.com/content/article/PII:S0002929713002206?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929713002206?httpAccept=text/plainTest

المؤلفون: Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

المصدر: The American Journal of Human Genetics ; volume 93, issue 5, page 994 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.10.018Test
https://api.elsevier.com/content/article/PII:S0002929713004758?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929713004758?httpAccept=text/plainTest

المؤلفون: Kim, Hyung-Goo, Kim, Hyun-Taek, Leach, Natalia T., Lan, Fei, Ullmann, Reinhard, Silahtaroglu, Asli, Kurth, Ingo, Nowka, Anja, Seong, Ihn Sik, Shen, Yiping, Talkowski, Michael E., Ruderfer, Douglas, Lee, Ji-Hyun, Glotzbach, Caron, Ha, Kyungsoo, Kjaergaard, Susanne, Levin, Alex V., Romeike, Bernd F., Kleefstra, Tjitske, Bartsch, Oliver, Elsea, Sarah H., Jabs, Ethylin Wang, MacDonald, Marcy E., Harris, David J., Quade, Bradley J., Ropers, Hans-Hilger, Shaffer, Lisa G., Kutsche, Kerstin, Layman, Lawrence C., Tommerup, Niels, Kalscheuer, Vera M., Shi, Yang, Morton, Cynthia C., Kim, Cheol-Hee, Gusella, James F.

المصدر: The American Journal of Human Genetics ; volume 91, issue 1, page 56-72 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.05.005Test
https://api.elsevier.com/content/article/PII:S0002929712002613?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712002613?httpAccept=text/plainTest

المؤلفون: Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith, Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, McGowan, Ruth, Metcalfe, Kay, Murdoch-Davis, Catherine, Ray, Mary, Rio, Marlène, Smithson, Sarah, Tolmie, John, Turnpenny, Peter, van Bon, Bregje, Wieczorek, Dagmar, Newbury-Ecob, Ruth

المصدر: European Journal of Human Genetics ; volume 19, issue 5, page 513-519 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2010.234Test
http://www.nature.com/articles/ejhg2010234.pdfTest
http://www.nature.com/articles/ejhg2010234Test

المؤلفون: Santer, René, Kinner, Martina, Steuerwald, Ulrike, Kjærgaard, Susanne, Skovby, Flemming, Simonsen, Henrik, Shaiu, Wen-Ling, Chen, Yuan-Tsong, Schneppenheim, Reinhard, Schaub, Jürgen

المصدر: European Journal of Human Genetics ; volume 9, issue 5, page 388-391 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200632Test
http://www.nature.com/articles/5200632.pdfTest
http://www.nature.com/articles/5200632Test

المؤلفون: Schollen, Els, Kjaergaard, Susanne, Legius, Eric, Schwartz, Marianne, Matthijs, Gert

المصدر: European Journal of Human Genetics ; volume 8, issue 5, page 367-371 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200470Test
http://www.nature.com/articles/5200470.pdfTest
http://www.nature.com/articles/5200470Test

المؤلفون: Kjaergaard, Susanne, Skovby, Flemming, Schwartz, Marianne

المصدر: European Journal of Human Genetics ; volume 7, issue 8, page 884-888 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200398Test
http://www.nature.com/articles/5200398.pdfTest
http://www.nature.com/articles/5200398Test