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Publisher:Detroit, MI : Omnigraphics, c2007.
Edition:2nd ed.
Call Numbers:G 2014/2078
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BooksPublisher:New York : Springer Verlag c2007.Call Numbers:N004/155For use in the LibraryExport record to excel
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BooksPublisher:New York : Macmillan ; Toronto : Maxwell Macmillan Canada ; Maxwell Macmillan International, c1994.Call Numbers:GQ 2013/432 , GQ 2013/431For use in the LibraryExport record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Riggs, Erin Rooney ; Andersen, Erica F. ; Cherry, Athena M. ; Kantarci, Sibel ; Kearney, Hutton ; Patel, Ankita ; Raca, Gordana ; Ritter, Deborah I. ; South, Sarah T. ; Thorland, Erik C. ; Pineda-Alvarez, Daniel ; Aradhya, Swaroop ; Martin, Christa LesePublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2020-02, Vol.22 (2), p.245-257View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Shay, Jerry W. ; Wright, Woodring E.Publisher:London: Nature Publishing Group UKJournal title:Nature reviews. Genetics, 2019-05, Vol.20 (5), p.299-309View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Lavoie, Hugo ; Therrien, MarcPublisher:London: Nature Publishing Group UKJournal title:Nature reviews. Molecular cell biology, 2015-05, Vol.16 (5), p.281-298View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Whitlock, Jordan H ; Soelter, Tabea M ; Howton, Timothy C ; Wilk, Elizabeth J ; Oza, Vishal H ; Lasseigne, Brittany NPublisher:EnglandJournal title:Journal of cellular and molecular medicine, 2023-11, Vol.27 (22), p.3565-3577View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Cretu Stancu, Mircea ; van Roosmalen, Markus J. ; Renkens, Ivo ; Nieboer, Marleen M. ; Middelkamp, Sjors ; de Ligt, Joep ; Pregno, Giulia ; Giachino, Daniela ; Mandrile, Giorgia ; Espejo Valle-Inclan, Jose ; Korzelius, Jerome ; de Bruijn, Ewart ; Cuppen, Edwin ; Talkowski, Michael E. ; Marschall, Tobias ; de Ridder, Jeroen ; Kloosterman, Wigard P.Publisher:London: Nature Publishing Group UKJournal title:Nature communications, 2017-11, Vol.8 (1), p.1326-13, Article 1326View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Bachmann-Gagescu, R ; Dempsey, J C ; Phelps, I G ; O'Roak, B J ; Knutzen, D M ; Rue, T C ; Ishak, G E ; Isabella, C R ; Gorden, N ; Adkins, J ; Boyle, E A ; de Lacy, N ; O'Day, D ; Alswaid, A ; Ramadevi A, Radha ; Lingappa, L ; Lourenço, C ; Martorell, L ; Garcia-Cazorla, À ; Ozyürek, H ; Haliloğlu, G ; Tuysuz, B ; Topçu, M ; Chance, P ; Parisi, M A ; Glass, I A ; Shendure, J ; Doherty, DPublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Adam, Margaret P ; Banka, Siddharth ; Bjornsson, Hans T ; Bodamer, Olaf ; Chudley, Albert E ; Harris, Jaqueline ; Kawame, Hiroshi ; Lanpher, Brendan C ; Lindsley, Andrew W ; Merla, Giuseppe ; Miyake, Noriko ; Okamoto, Nobuhiko ; Stumpel, Constanze T ; Niikawa, NorioPublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Collier, Jack J ; Guissart, Claire ; Oláhová, Monika ; Sasorith, Souphatta ; Piron-Prunier, Florence ; Suomi, Fumi ; Zhang, David ; Martinez-Lopez, Nuria ; Leboucq, Nicolas ; Bahr, Angela ; Azzarello-Burri, Silvia ; Reich, Selina ; Schöls, Ludger ; Polvikoski, Tuomo M ; Meyer, Pierre ; Larrieu, Lise ; Schaefer, Andrew M ; Alsaif, Hessa S ; Alyamani, Suad ; Zuchner, Stephan ; Barbosa, Inês A ; Deshpande, Charu ; Pyle, Angela ; Rauch, Anita ; Synofzik, Matthis ; Alkuraya, Fowzan S ; Rivier, François ; Ryten, Mina ; McFarland, Robert ; Delahodde, Agnès ; McWilliams, Thomas G ; Koenig, Michel ; Taylor, Robert WPublisher:United States: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Warnier, Hélène ; Barrea, Christophe ; Bethlen, Sarah ; Schrouff, Isabelle ; Harvengt, JuliePublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.174-174, Article 174View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Zhang, Jinglan ; Li, Jianli ; Saucier, Jennifer B. ; Feng, Yanming ; Jiang, Yanjun ; Sinson, Jefferson ; McCombs, Anne K. ; Schmitt, Eric S. ; Peacock, Sandra ; Chen, Stella ; Dai, Hongzheng ; Ge, Xiaoyan ; Wang, Guoli ; Shaw, Chad A. ; Mei, Hui ; Breman, Amy ; Xia, Fan ; Yang, Yaping ; Purgason, Anne ; Pourpak, Alan ; Chen, Zhao ; Wang, Xia ; Wang, Yue ; Kulkarni, Shashikant ; Choy, Kwong Wai ; Wapner, Ronald J. ; Van den Veyver, Ignatia B. ; Beaudet, Arthur ; Parmar, Sheetal ; Wong, Lee-Jun ; Eng, Christine M.Publisher:New York: Nature Publishing Group USJournal title:Nature medicine, 2019-03, Vol.25 (3), p.439-447View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:McDonald-McGinn, Donna M. ; Sullivan, Kathleen E. ; Marino, Bruno ; Philip, Nicole ; Swillen, Ann ; Vorstman, Jacob A. S. ; Zackai, Elaine H. ; Emanuel, Beverly S. ; Vermeesch, Joris R. ; Morrow, Bernice E. ; Scambler, Peter J. ; Bassett, Anne S.Publisher:London: Nature Publishing Group UKJournal title:Nature reviews. Disease primers, 2015-11, Vol.1 (1), p.15071-15071, Article 15071View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Matsuda, Mitsuhiro ; Yamanaka, Yoshihiro ; Uemura, Maya ; Osawa, Mitsujiro ; Saito, Megumu K. ; Nagahashi, Ayako ; Nishio, Megumi ; Guo, Long ; Ikegawa, Shiro ; Sakurai, Satoko ; Kihara, Shunsuke ; Maurissen, Thomas L. ; Nakamura, Michiko ; Matsumoto, Tomoko ; Yoshitomi, Hiroyuki ; Ikeya, Makoto ; Kawakami, Noriaki ; Yamamoto, Takuya ; Woltjen, Knut ; Ebisuya, Miki ; Toguchida, Junya ; Alev, CantasPublisher:London: Nature Publishing Group UKJournal title:Nature (London), 2020-04, Vol.580 (7801), p.124-129View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Mortreux, Jérémie ; Busa, Tiffany ; Germain, Dominique P ; Nadeau, Gwenaël ; Puechberty, Jacques ; Coubes, Christine ; Gatinois, Vincent ; Cacciagli, Pierre ; Duffourd, Yannis ; Pinard, Jean-Marc ; Tevissen, Hélène ; Villard, Laurent ; Sanlaville, Damien ; Philip, Nicole ; Missirian, ChantalPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.143-148View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Ng, Sarah B ; Bigham, Abigail W ; Buckingham, Kati J ; Hannibal, Mark C ; McMillin, Margaret J ; Gildersleeve, Heidi I ; Beck, Anita E ; Tabor, Holly K ; Cooper, Gregory M ; Mefford, Heather C ; Lee, Choli ; Turner, Emily H ; Smith, Joshua D ; Rieder, Mark J ; Yoshiura, Koh-ichiro ; Matsumoto, Naomichi ; Ohta, Tohru ; Niikawa, Norio ; Nickerson, Deborah A ; Bamshad, Michael J ; Shendure, JayPublisher:New York: Nature Publishing Group USJournal title:Nature genetics, 2010-09, Vol.42 (9), p.790-793View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Tatton-Brown, Katrina ; Seal, Sheila ; Ruark, Elise ; Harmer, Jenny ; Ramsay, Emma ; del Vecchio Duarte, Silvana ; Zachariou, Anna ; Hanks, Sandra ; O'Brien, Eleanor ; Aksglaede, Lise ; Baralle, Diana ; Dabir, Tabib ; Gener, Blanca ; Goudie, David ; Homfray, Tessa ; Kumar, Ajith ; Pilz, Daniela T ; Selicorni, Angelo ; Temple, I Karen ; Van Maldergem, Lionel ; Yachelevich, Naomi ; van Montfort, Robert ; Rahman, NazneenPublisher:New York: Nature Publishing Group USJournal title:Nature genetics, 2014-04, Vol.46 (4), p.385-388View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Parker, Victoria E. R. ; Keppler-Noreuil, Kim M. ; Faivre, Laurence ; Luu, Maxime ; Oden, Neal L. ; De Silva, Leena ; Sapp, Julie C. ; Andrews, Katrina ; Bardou, Marc ; Chen, Kong Y. ; Darling, Thomas N. ; Gautier, Elodie ; Goldspiel, Barry R. ; Hadj-Rabia, Smail ; Harris, Julie ; Kounidas, Georgios ; Kumar, Parag ; Lindhurst, Marjorie J. ; Loffroy, Romaric ; Martin, Ludovic ; Phan, Alice ; Rother, Kristina I. ; Widemann, Brigitte C. ; Wolters, Pamela L. ; Coubes, Christine ; Pinson, Lucile ; Willems, Marjolaine ; Vincent-Delorme, Catherine ; Vabres, Pierre ; Semple, Robert K. ; Biesecker, Leslie G.Publisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2019-05, Vol.21 (5), p.1189-1198View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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