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Books
Publisher:Hoboken, N.J. : Wiley-Liss, c2005.
Edition:2nd ed.
Call Numbers:NQ616.042/13
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BooksPublisher:Cambridge ; New York : Cambridge University Press, 2015.Edition:Second edition.Call Numbers:H 2017/174For use in the LibraryExport record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Zenker, Martin ; Edouard, Thomas ; Blair, Joanne C ; Cappa, MarcoPublisher:England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthJournal title:Archives of disease in childhood, 2022-12, Vol.107 (12), p.1073-1078View 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:Roberts, Amy E, Dr ; Allanson, Judith E, Prof ; Tartaglia, Marco, PhD ; Gelb, Bruce D, ProfPublisher:Kidlington: Elsevier LtdJournal title:The Lancet (British edition), 2013-01, Vol.381 (9863), p.333-342View 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:Johnston, Jennifer J ; van der Smagt, Jasper J ; Rosenfeld, Jill A ; Pagnamenta, Alistair T ; Alswaid, Abdulrahman ; Baker, Eva H ; Blair, Edward ; Borck, Guntram ; Brinkmann, Julia ; Craigen, William ; Dung, Vu Chi ; Emrick, Lisa ; Everman, David B ; van Gassen, Koen L ; Gulsuner, Suleyman ; Harr, Margaret H ; Jain, Mahim ; Kuechler, Alma ; Leppig, Kathleen A ; McDonald-McGinn, Donna M ; Can, Ngoc Thi Bich ; Peleg, Amir ; Roeder, Elizabeth R ; Rogers, R Curtis ; Sagi-Dain, Lena ; Sapp, Julie C ; Schäffer, Alejandro A ; Schanze, Denny ; Stewart, Helen ; Taylor, Jenny C ; Verbeek, Nienke E ; Walkiewicz, Magdalena A ; Zackai, Elaine H ; Zweier, Christiane ; Zenker, Martin ; Lee, Brendan ; Biesecker, Leslie GPublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2018-10, Vol.20 (10), p.1175-1185View 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:Steklov, M. ; Pandolfi, S. ; Baietti, M. F. ; Batiuk, A. ; Carai, P. ; Najm, P. ; Zhang, M. ; Jang, H. ; Renzi, F. ; Cai, Y. ; Abbasi Asbagh, L. ; Pastor, T. ; De Troyer, M. ; Simicek, M. ; Radaelli, E. ; Brems, H. ; Legius, E. ; Tavernier, J. ; Gevaert, K. ; Impens, F. ; Messiaen, L. ; Nussinov, R. ; Heymans, S. ; Eyckerman, S. ; Sablina, A. A.Publisher:United States: The American Association for the Advancement of ScienceJournal title:Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6419), p.1177-1182View 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:Yamamoto, Guilherme Lopes ; Aguena, Meire ; Gos, Monika ; Hung, Christina ; Pilch, Jacek ; Fahiminiya, Somayyeh ; Abramowicz, Anna ; Cristian, Ingrid ; Buscarilli, Michelle ; Naslavsky, Michel Satya ; Malaquias, Alexsandra C ; Zatz, Mayana ; Bodamer, Olaf ; Majewski, Jacek ; Jorge, Alexander A L ; Pereira, Alexandre C ; Kim, Chong Ae ; Passos-Bueno, Maria Rita ; Bertola, Débora RomeoPublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2015-06, Vol.52 (6), p.413-421View 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:Hebron, Katie E. ; Hernandez, Edjay Ralph ; Yohe, Marielle E.Publisher:England: The Company of Biologists LtdJournal title:Disease models & mechanisms, 2022-02, Vol.15 (2)View 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:Dong, Lei ; Yu, Wen-Mei ; Zheng, Hong ; Loh, Mignon L. ; Bunting, Silvia T. ; Pauly, Melinda ; Huang, Gang ; Zhou, Muxiang ; Broxmeyer, Hal E. ; Scadden, David T. ; Qu, Cheng-KuiPublisher:London: Nature Publishing Group UKJournal title:Nature (London), 2016-11, Vol.539 (7628), p.304-308View 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:Kratz, C P ; Franke, L ; Peters, H ; Kohlschmidt, N ; Kazmierczak, B ; Finckh, U ; Bier, A ; Eichhorn, B ; Blank, C ; Kraus, C ; Kohlhase, J ; Pauli, S ; Wildhardt, G ; Kutsche, K ; Auber, B ; Christmann, A ; Bachmann, N ; Mitter, D ; Cremer, F W ; Mayer, K ; Daumer-Haas, C ; Nevinny-Stickel-Hinzpeter, C ; Oeffner, F ; Schlüter, G ; Gencik, M ; Überlacker, B ; Lissewski, C ; Schanze, I ; Greene, M H ; Spix, C ; Zenker, MPublisher:London: Nature Publishing Group UKJournal title:British journal of cancer, 2015-04, Vol.112 (8), p.1392-1397View 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:Inoue, Daichi ; Polaski, Jacob T. ; Taylor, Justin ; Castel, Pau ; Chen, Sisi ; Kobayashi, Susumu ; Hogg, Simon J. ; Hayashi, Yasutaka ; Pineda, Jose Mario Bello ; El Marabti, Ettaib ; Erickson, Caroline ; Knorr, Katherine ; Fukumoto, Miki ; Yamazaki, Hiromi ; Tanaka, Atsushi ; Fukui, Chie ; Lu, Sydney X. ; Durham, Benjamin H. ; Liu, Bo ; Wang, Eric ; Mehta, Sanjoy ; Zakheim, Daniel ; Garippa, Ralph ; Penson, Alex ; Chew, Guo-Liang ; McCormick, Frank ; Bradley, Robert K. ; Abdel-Wahab, OmarPublisher:New York: Nature Publishing Group USJournal title:Nature genetics, 2021-05, Vol.53 (5), p.707-718View 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:Castel, Pau ; Cheng, Alice ; Cuevas-Navarro, Antonio ; Everman, David B. ; Papageorge, Alex G. ; Simanshu, Dhirendra K. ; Tankka, Alexandra ; Galeas, Jacqueline ; Urisman, Anatoly ; McCormick, FrankPublisher:United States: American Association for the Advancement of ScienceJournal title:Science (American Association for the Advancement of Science), 2019-03, Vol.363 (6432), p.1226-1230View 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:Pinna, Valentina ; Lanari, Valentina ; Daniele, Paola ; Consoli, Federica ; Agolini, Emanuele ; Margiotti, Katia ; Bottillo, Irene ; Torrente, Isabella ; Bruselles, Alessandro ; Fusilli, Caterina ; Ficcadenti, Anna ; Bargiacchi, Sara ; Trevisson, Eva ; Forzan, Monica ; Giustini, Sandra ; Leoni, Chiara ; Zampino, Giuseppe ; Cristina Digilio, Maria ; Dallapiccola, Bruno ; Clementi, Maurizio ; Tartaglia, Marco ; De Luca, AlessandroPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1068-1071View 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:Lipka, Daniel B. ; Witte, Tania ; Toth, Reka ; Yang, Jing ; Wiesenfarth, Manuel ; Nöllke, Peter ; Fischer, Alexandra ; Brocks, David ; Gu, Zuguang ; Park, Jeongbin ; Strahm, Brigitte ; Wlodarski, Marcin ; Yoshimi, Ayami ; Claus, Rainer ; Lübbert, Michael ; Busch, Hauke ; Boerries, Melanie ; Hartmann, Mark ; Schönung, Maximilian ; Kilik, Umut ; Langstein, Jens ; Wierzbinska, Justyna A. ; Pabst, Caroline ; Garg, Swati ; Catalá, Albert ; De Moerloose, Barbara ; Dworzak, Michael ; Hasle, Henrik ; Locatelli, Franco ; Masetti, Riccardo ; Schmugge, Markus ; Smith, Owen ; Stary, Jan ; Ussowicz, Marek ; van den Heuvel-Eibrink, Marry M. ; Assenov, Yassen ; Schlesner, Matthias ; Niemeyer, Charlotte ; Flotho, Christian ; Plass, ChristophPublisher:London: Nature Publishing Group UKJournal title:Nature communications, 2017-12, Vol.8 (1), p.2126-14, Article 2126View 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:Chen, Peng-Chieh ; Yin, Jiani ; Yu, Hui-Wen ; Yuan, Tao ; Fernande, Minerva ; Yung, Christina K. ; Trinh, Quang M. ; Peltekova, Vanya D. ; Reid, Jeffrey G. ; Tworog-Dube, Erica ; Morgan, Margaret B. ; Muzny, Donna M. ; Stein, Lincoln ; McPherson, John D. ; Roberts, Amy E. ; Gibbs, Richard A. ; Neel, Benjamin G. ; Kucherlapati, RajuPublisher:United States: National Academy of SciencesJournal title:Proceedings of the National Academy of Sciences - PNAS, 2014-08, Vol.111 (31), p.11473-11478View 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:Bonsor, Daniel A. ; Alexander, Patrick ; Snead, Kelly ; Hartig, Nicole ; Drew, Matthew ; Messing, Simon ; Finci, Lorenzo I. ; Nissley, Dwight V. ; McCormick, Frank ; Esposito, Dominic ; Rodriguez-Viciana, Pablo ; Stephen, Andrew G. ; Simanshu, Dhirendra K.Publisher:New York: Nature Publishing Group USJournal title:Nature structural & molecular biology, 2022-10, Vol.29 (10), p.966-977View 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:Goto, Yusuke ; Niihori, Tetsuya ; Mizuno, Seiji ; Okamoto, Nobuhiko ; Ogata, Tsutomu ; Kurosawa, Kenji ; Ohashi, Hirofumi ; Matsubara, Yoichi ; Abe, Taiki ; Kikuchi, Atsuo ; Aoki, YokoPublisher:London: Nature Publishing Group UKJournal title:Scientific reports, 2025-04, Vol.15 (1), p.15179-15, Article 15179View 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:Strullu, Marion ; Caye, Aurélie ; Lachenaud, Julie ; Cassinat, Bruno ; Gazal, Steven ; Fenneteau, Odile ; Pouvreau, Nathalie ; Pereira, Sabrina ; Baumann, Clarisse ; Contet, Audrey ; Sirvent, Nicolas ; Méchinaud, Françoise ; Guellec, Isabelle ; Adjaoud, Dalila ; Paillard, Catherine ; Alberti, Corinne ; Zenker, Martin ; Chomienne, Christine ; Bertrand, Yves ; Baruchel, André ; Verloes, Alain ; Cavé, HélènePublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2014-10, Vol.51 (10), p.689-697View 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:Saint-Laurent, Céline ; Mazeyrie, Laurène ; Yart, Armelle ; Edouard, ThomasPublisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:European journal of pediatrics, 2024-03, Vol.183 (3), p.1011-1019View 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:Binder, Gerhard ; Wittekindt, Nicola ; Ranke, Michael B.Publisher:Basel, SwitzerlandJournal title:Hormone Research in Paediatrics, 2007-01, Vol.67 (Suppl 1), p.45-49View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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