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Publisher:Detroit, MI : Omnigraphics, c2007.
Edition:2nd ed.
Call Numbers:G 2014/2078
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BooksAuthor / Creator:Reilly, Philip, 1947- author.Publisher:Cold Spring Harbor, New York : Cold Spring Harbor Laboratory Press, [2015]Call Numbers:G 2015/4027For use in the LibraryExport record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Biesecker, Leslie G ; Green, Robert CPublisher:Waltham, MA: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2014-06, Vol.370 (25), p.2418-2425View 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:Liu, Pengfei ; Meng, Linyan ; Normand, Elizabeth A ; Xia, Fan ; Song, Xiaofei ; Ghazi, Andrew ; Rosenfeld, Jill ; Magoulas, Pilar L ; Braxton, Alicia ; Ward, Patricia ; Dai, Hongzheng ; Yuan, Bo ; Bi, Weimin ; Xiao, Rui ; Wang, Xia ; Chiang, Theodore ; Vetrini, Francesco ; He, Weimin ; Cheng, Hanyin ; Dong, Jie ; Gijavanekar, Charul ; Benke, Paul J ; Bernstein, Jonathan A ; Eble, Tanya ; Eroglu, Yasemen ; Erwin, Deanna ; Escobar, Luis ; Gibson, James B ; Gripp, Karen ; Kleppe, Soledad ; Koenig, Mary K ; Lewis, Andrea M ; Natowicz, Marvin ; Mancias, Pedro ; Minor, LaKeesha ; Scaglia, Fernando ; Schaaf, Christian P ; Streff, Haley ; Vernon, Hilary ; Uhles, Crescenda L ; Zackai, Elaine H ; Wu, Nan ; Sutton, V. Reid ; Beaudet, Arthur L ; Muzny, Donna ; Gibbs, Richard A ; Posey, Jennifer E ; Lalani, Seema ; Shaw, Chad ; Eng, Christine M ; Lupski, James R ; Yang, YapingPublisher:United States: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480View 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:Retterer, Kyle ; Juusola, Jane ; Cho, Megan T. ; Vitazka, Patrik ; Millan, Francisca ; Gibellini, Federica ; Vertino-Bell, Annette ; Smaoui, Nizar ; Neidich, Julie ; Monaghan, Kristin G. ; McKnight, Dianalee ; Bai, Renkui ; Suchy, Sharon ; Friedman, Bethany ; Tahiliani, Jackie ; Pineda-Alvarez, Daniel ; Richard, Gabriele ; Brandt, Tracy ; Haverfield, Eden ; Chung, Wendy K. ; Bale, SherriPublisher:New York: Elsevier IncJournal title:Genetics in medicine, 2016-07, Vol.18 (7), p.696-704View 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:Gurovich, Yaron ; Hanani, Yair ; Bar, Omri ; Nadav, Guy ; Fleischer, Nicole ; Gelbman, Dekel ; Basel-Salmon, Lina ; Krawitz, Peter M. ; Kamphausen, Susanne B. ; Zenker, Martin ; Bird, Lynne M. ; Gripp, Karen W.Publisher:New York: Nature Publishing Group USJournal title:Nature medicine, 2019-01, Vol.25 (1), p.60-64View 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:Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens ; Zhang, Zhancheng ; Arvai, Kevin J. ; Eberhardt, Ruth Y. ; Gallone, Giuseppe ; Lelieveld, Stefan H. ; Martin, Hilary C. ; McRae, Jeremy F. ; Short, Patrick J. ; Torene, Rebecca I. ; de Boer, Elke ; Danecek, Petr ; Gardner, Eugene J. ; Huang, Ni ; Lord, Jenny ; Martincorena, Iñigo ; Pfundt, Rolph ; Reijnders, Margot R. F. ; Yeung, Alison ; Yntema, Helger G. ; Vissers, Lisenka E. L. M. ; Juusola, Jane ; Wright, Caroline F. ; Brunner, Han G. ; Firth, Helen V. ; FitzPatrick, David R. ; Barrett, Jeffrey C. ; Hurles, Matthew E. ; Gilissen, Christian ; Retterer, KylePublisher:London: Nature Publishing Group UKJournal title:Nature (London), 2020-10, Vol.586 (7831), p.757-762View 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:Yang, Yaping ; Muzny, Donna M ; Reid, Jeffrey G ; Bainbridge, Matthew N ; Willis, Alecia ; Ward, Patricia A ; Braxton, Alicia ; Beuten, Joke ; Xia, Fan ; Niu, Zhiyv ; Hardison, Matthew ; Person, Richard ; Bekheirnia, Mir Reza ; Leduc, Magalie S ; Kirby, Amelia ; Pham, Peter ; Scull, Jennifer ; Wang, Min ; Ding, Yan ; Plon, Sharon E ; Lupski, James R ; Beaudet, Arthur L ; Gibbs, Richard A ; Eng, Christine MPublisher:United States: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511View 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:Jagadeesh, Karthik A. ; Wu, David J. ; Birgmeier, Johannes A. ; Boneh, Dan ; Bejerano, GillPublisher:United States: American Association for the Advancement of ScienceJournal title:Science (American Association for the Advancement of Science), 2017-08, Vol.357 (6352), p.692-695View 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:Stark, Zornitza ; Tan, Tiong Y. ; Chong, Belinda ; Brett, Gemma R. ; Yap, Patrick ; Walsh, Maie ; Yeung, Alison ; Peters, Heidi ; Mordaunt, Dylan ; Cowie, Shannon ; Amor, David J. ; Savarirayan, Ravi ; McGillivray, George ; Downie, Lilian ; Ekert, Paul G. ; Theda, Christiane ; James, Paul A. ; Yaplito-Lee, Joy ; Ryan, Monique M. ; Leventer, Richard J. ; Creed, Emma ; Macciocca, Ivan ; Bell, Katrina M. ; Oshlack, Alicia ; Sadedin, Simon ; Georgeson, Peter ; Anderson, Charlotte ; Thorne, Natalie ; Gaff, Clara ; White, Susan M.Publisher:New York: Elsevier IncJournal title:Genetics in medicine, 2016-11, Vol.18 (11), p.1090-1096View 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:Wright, Caroline F. ; Campbell, Patrick ; Eberhardt, Ruth Y. ; Aitken, Stuart ; Perrett, Daniel ; Brent, Simon ; Danecek, Petr ; Gardner, Eugene J. ; Chundru, V. Kartik ; Lindsay, Sarah J. ; Andrews, Katrina ; Hampstead, Juliet ; Kaplanis, Joanna ; Samocha, Kaitlin E. ; Middleton, Anna ; Foreman, Julia ; Hobson, Rachel J. ; Parker, Michael J. ; Martin, Hilary C. ; FitzPatrick, David R. ; Hurles, Matthew E. ; Firth, Helen V.Publisher:United States: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571View 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:Kelly, Melissa A ; Caleshu, Colleen ; Morales, Ana ; Buchan, Jillian ; Wolf, Zena ; Harrison, Steven M ; Cook, Stuart ; Dillon, Mitchell W ; Garcia, John ; Haverfield, Eden ; Jongbloed, Jan D H ; Macaya, Daniela ; Manrai, Arjun ; Orland, Kate ; Richard, Gabriele ; Spoonamore, Katherine ; Thomas, Matthew ; Thomson, Kate ; Vincent, Lisa M ; Walsh, Roddy ; Watkins, Hugh ; Whiffin, Nicola ; Ingles, Jodie ; van Tintelen, J Peter ; Semsarian, Christopher ; Ware, James S ; Hershberger, Ray ; Funke, BirgitPublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2018-03, Vol.20 (3), p.351-359View 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:Bastarache, Lisa ; Hughey, Jacob J ; Hebbring, Scott ; Marlo, Joy ; Zhao, Wanke ; Ho, Wanting T ; Van Driest, Sara L ; McGregor, Tracy L ; Mosley, Jonathan D ; Wells, Quinn S ; Temple, Michael ; Ramirez, Andrea H ; Carroll, Robert ; Osterman, Travis ; Edwards, Todd ; Ruderfer, Douglas ; Velez Edwards, Digna R ; Hamid, Rizwan ; Cogan, Joy ; Glazer, Andrew ; Wei, Wei-Qi ; Feng, QiPing ; Brilliant, Murray ; Zhao, Zhizhuang J ; Cox, Nancy J ; Roden, Dan M ; Denny, Joshua CPublisher:United States: The American Association for the Advancement of ScienceJournal title:Science (American Association for the Advancement of Science), 2018-03, Vol.359 (6381), p.1233-1239View 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:Kaminski, Michael M. ; Abudayyeh, Omar O. ; Gootenberg, Jonathan S. ; Zhang, Feng ; Collins, James J.Publisher:London: Nature Publishing Group UKJournal title:Nature biomedical engineering, 2021-07, Vol.5 (7), p.643-656View 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:Timpson, Nicholas J. ; Greenwood, Celia M. T. ; Soranzo, Nicole ; Lawson, Daniel J. ; Richards, J. BrentPublisher:London: Nature Publishing Group UKJournal title:Nature reviews. Genetics, 2018-02, Vol.19 (2), p.110-124View 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:Adams, David R ; Eng, Christine MPublisher:United States: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2018-10, Vol.379 (14), p.1353-1362View 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:Eichler, Evan EPublisher:United States: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2019-07, Vol.381 (1), p.64-74View 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:Alarcón Garavito, Germán Andrés ; Moniz, Thomas ; Déom, Noémie ; Redin, Federico ; Pichini, Amanda ; Vindrola-Padros, CeciliaPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.282-295View 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:Monies, Dorota ; Abouelhoda, Mohamed ; AlSayed, Moeenaldeen ; Alhassnan, Zuhair ; Alotaibi, Maha ; Al-Owain, Mohammed ; Shah, Ayaz ; Rahbeeni, Zuhair ; Al-Muhaizea, Mohammad A. ; Alzaidan, Hamad I. ; Cupler, Edward ; Bohlega, Saeed ; Faqeih, Eissa ; Faden, Maha ; Alyounes, Banan ; Jaroudi, Dyala ; Goljan, Ewa ; Elbardisy, Hadeel ; Akilan, Asma ; Albar, Renad ; Aldhalaan, Hesham ; Gulab, Shamshad ; Chedrawi, Aziza ; Al Saud, Bandar K ; Kurdi, Wesam ; Makhseed, Nawal ; Alqasim, Tahani ; El Khashab, Heba Y. ; Al-Mousa, Hamoud ; Kanaan, Imaduddin ; Algoufi, Talal ; Alsaleem, Khalid ; Basha, Talal A. ; Al-Murshedi, Fathiya ; Al-Kindy, Adila ; Al-Hajjar, Sami ; Alyamani, Suad ; Aldhekri, Hasan ; Al-Mehaidib, Ali ; Arnaout, Rand ; Dabbagh, Omar ; Shagrani, Mohammad ; Broering, Dieter ; Alqassmi, Amal ; Almugbel, Maisoon ; AlQuaiz, Mohammed ; Alsaman, Abdulaziz ; Al-Thihli, Khalid ; Sulaiman, Raashda A. ; Al-Dekhail, Wajeeh ; Alsaegh, Abeer ; Bashiri, Fahad A. ; Qari, Alya ; Alhomadi, Suzan ; Alkuraya, Hisham ; Alsebayel, Mohammed ; Hamad, Muddathir H ; Szonyi, Laszlo ; Abaalkhail, Faisal ; Al-Mayouf, Sulaiman M. ; Almojalli, Hamad ; Alqadi, Khalid S. ; Elsiesy, Hussien ; Shuaib, Taghreed M. ; Seidahmed, Mohammed Zain ; Abosoudah, Ibraheem ; Akleh, Hana ; AlGhonaium, Abdulaziz ; Alkharfy, Turki M. ; Al Mutairi, Fuad ; Eyaid, Wafa ; Alshanbary, Abdullah ; Sheikh, Farrukh R. ; Alsohaibani, Fahad I. ; Al Tala, Saeed ; Balkhy, Soher ; Bassiouni, Randa ; Alenizi, Ahmed S. ; Hussein, Maged H. ; Hassan, Saeed ; Khalil, Mohamed ; Tabarki, Brahim ; Alshahwan, Saad ; Oshi, Amira ; Sabr, Yasser ; Alsaadoun, Saad ; Salih, Mustafa A. ; Mohamed, Sarar ; Sultana, Habiba ; Tamim, Abdullah ; El-Haj, Moayad ; Alshahrani, Saif ; Bubshait, Dalal K. ; Alfadhel, Majid ; Faquih, Tariq ; El-Kalioby, Mohamed ; Shah, Zeeshan ; Moghrabi, Nabil ; Meyer, Brian F. ; Alkuraya, Fowzan S.Publisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:Human genetics, 2017-08, Vol.136 (8), p.921-939View 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:Lionel, Anath C ; Costain, Gregory ; Monfared, Nasim ; Walker, Susan ; Reuter, Miriam S ; Hosseini, S Mohsen ; Thiruvahindrapuram, Bhooma ; Merico, Daniele ; Jobling, Rebekah ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Sung, Wilson W L ; Wang, Zhuozhi ; Bikangaga, Peter ; Boelman, Cyrus ; Carter, Melissa T ; Cordeiro, Dawn ; Cytrynbaum, Cheryl ; Dell, Sharon D ; Dhir, Priya ; Dowling, James J ; Heon, Elise ; Hewson, Stacy ; Hiraki, Linda ; Inbar-Feigenberg, Michal ; Klatt, Regan ; Kronick, Jonathan ; Laxer, Ronald M ; Licht, Christoph ; MacDonald, Heather ; Mercimek-Andrews, Saadet ; Mendoza-Londono, Roberto ; Piscione, Tino ; Schneider, Rayfel ; Schulze, Andreas ; Silverman, Earl ; Siriwardena, Komudi ; Snead, O Carter ; Sondheimer, Neal ; Sutherland, Joanne ; Vincent, Ajoy ; Wasserman, Jonathan D ; Weksberg, Rosanna ; Shuman, Cheryl ; Carew, Chris ; Szego, Michael J ; Hayeems, Robin Z ; Basran, Raveen ; Stavropoulos, Dimitri J ; Ray, Peter N ; Bowdin, Sarah ; Meyn, M Stephen ; Cohn, Ronald D ; Scherer, Stephen W ; Marshall, Christian RPublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2018-04, Vol.20 (4), p.435-443View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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