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Publisher:New York : Taylor & Francis, 2008.
Date:2008.
Call Numbers:N616.8/57
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ArticlesPeer ReviewedFull TextAuthor / Creator:Zivony-Elboum, Yifat ; Westbroek, Wendy ; Kfir, Nehama ; Savitzki, David ; Shoval, Yishay ; Bloom, Assnat ; Rod, Raya ; Khayat, Morad ; Gross, Bella ; Samri, Walid ; Cohen, Hector ; Sonkin, Vadim ; Freidman, Tatiana ; Geiger, Dan ; Fattal-Valevski, Aviva ; Anikster, Yair ; Waters, Aoife M ; Kleta, Robert ; Falik-Zaccai, Tzipora CPublisher:London: BMJ Publishing Group LtdJournal title:Journal of medical genetics, 2012-07, Vol.49 (7), p.462-472View 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:Meyyazhagan, Arun ; Orlacchio, AntonioPublisher:Switzerland: MDPI AGJournal title:International journal of molecular sciences, 2022-02, Vol.23 (3), p.1697View 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:Shribman, Samuel ; Reid, Evan ; Crosby, Andrew H ; Houlden, Henry ; Warner, Thomas TPublisher:England: Elsevier LtdJournal title:Lancet neurology, 2019-12, Vol.18 (12), p.1136-1146View 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:Novarino, Gaia ; Fenstermaker, Ali G. ; Zaki, Maha S. ; Hofree, Matan ; Silhavy, Jennifer L. ; Heiberg, Andrew D. ; Abdellateef, Mostafa ; Rosti, Basak ; Scott, Eric ; Mansour, Lobna ; Masri, Amira ; Kayserili, Hulya ; Al-Aama, Jumana Y. ; Abdel-Salam, Ghada M. H. ; Karminejad, Ariana ; Kara, Majdi ; Kara, Bulent ; Bozorgmehri, Bita ; Ben-Omran, Tawfeg ; Mojahedi, Faezeh ; Mahmoud, Iman Gamal El Din ; Bouslam, Naima ; Bouhouche, Ahmed ; Benomar, Ali ; Hanein, Sylvain ; Raymond, Laure ; Forlani, Sylvie ; Mascaro, Massimo ; Selim, Laila ; Shehata, Nabil ; Al-Allawi, Nasir ; Bindu, P.S. ; Azam, Matloob ; Gunel, Murat ; Caglayan, Ahmet ; Bilguvar, Kaya ; Tolun, Aslihan ; Issa, Mahmoud Y. ; Schroth, Jana ; Spencer, Emily G. ; Rosti, Rasim O. ; Akizu, Naiara ; Vaux, Keith K. ; Johansen, Anide ; Koh, Alice A. ; Megahed, Hisham ; Durr, Alexandra ; Brice, Alexis ; Stevanin, Giovanni ; Gabriel, Stacy B. ; Ideker, Trey ; Gleeson, Joseph G.Publisher:United States: American Association for the Advancement of ScienceJournal title:Science (American Association for the Advancement of Science), 2014-01, Vol.343 (6170), p.506-511View 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:Fink, John K.Publisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:Acta neuropathologica, 2013-09, Vol.126 (3), p.307-328View 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:Erfanian Omidvar, Maryam ; Torkamandi, Shahram ; Rezaei, Somaye ; Alipoor, Behnam ; Omrani, Mir Davood ; Darvish, Hossein ; Ghaedi, HamidPublisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:Journal of neurology, 2021-06, Vol.268 (6), p.2065-2082View 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:Ruiter, Jos P.N. ; van Lint, Alida E.M. ; Pras-Raves, Mia ; Wever, Eric ; Guillen Sacoto, Maria J. ; Begtrup, Amber ; Tarnopolsky, Mark ; Sell, Susan L. ; Nowak, Catherine B. ; Douglas, Jessica ; Perlman, Seth ; Martin, Nicole ; Brault, Jennifer ; Gahl, William A. ; Alejandro, Mercedes E. ; Dai, Hongzheng ; Dhar, Shweta U. ; Hanchard, Neil A. ; Lee, Brendan H. ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Potocki, Lorraine ; Scott, Daryl A. ; Eng, Christine M. ; Deardorff, Matthew ; Hassey, Kelly ; Sullivan, Kathleen ; Tan, Queenie K.-G. ; Beggs, Alan H. ; Berry, Gerard T. ; Cooper, Cynthia M. ; Pallais, J. Carl ; Rodan, Lance H. ; Kelley, Emily G. ; Morava, Eva ; Forghani, Irman ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Tekin, Mustafa ; Thorson, Willa ; Findley, Laurie C. ; Krasnewich, Donna M. ; Manolio, Teri A. ; Goldrich, Madison P. ; Draper, David D. ; Nath, Avi ; Pusey, Barbara N. ; Toro, Camilo ; Baker, Eva ; Gochuico, Bernadette ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Adam, Margaret ; Amendola, Laura ; Cunningham, Michael ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Lam, Christina ; Raskind, Wendy ; Sybert, Virginia ; Ashley, Euan A. ; Coakley, Terra R. ; Hom, Jason ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; Ruzhnikov, Maura ; Tabor, Holly K. ; Tucker, Brianna M. ; Zastrow, Diane B. ; Byrd, William E. ; Dell’Angelica, Esteban C. ; Douine, Emilie D. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Parker, Neil H. ; Sinsheimer, Janet S. ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Pace, Laura ; Marth, Gabor ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Duncan, Laura ; Robertson, Amy K. ; Solem, Emily ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Waisfisz, Quinten ; Zwijnenburg, Petra J.G. ; Wanders, Ronald J.A. ; Vaz, Frédéric M.Publisher:New York: Elsevier IncJournal title:Genetics in medicine, 2021-04, Vol.23 (4), p.740-750View 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:Mattera, Rafael ; Park, Sang Yoon ; De Pace, Raffaella ; Guardia, Carlos M. ; Bonifacino, Juan S.Publisher:United States: National Academy of SciencesJournal title:Proceedings of the National Academy of Sciences - PNAS, 2017-12, Vol.114 (50), p.E10697-E10706View 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:Chung, Jeeyun ; Park, Joongkyu ; Lai, Zon Weng ; Lambert, Talley J. ; Richards, Ruth C. ; Zhang, Jiuchun ; Walther, Tobias C. ; Farese, Robert V.Publisher:London: Nature Publishing Group UKJournal title:Nature cell biology, 2023-08, Vol.25 (8), p.1101-1110View 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:Pennings, Maartje ; Schouten, Meyke I ; van Gaalen, Judith ; Meijer, Rowdy P P ; de Bot, Susanne T ; Kriek, Marjolein ; Saris, Christiaan G J ; van den Berg, Leonard H ; van Es, Michael A ; Zuidgeest, Dick M H ; Elting, Mariet W ; van de Kamp, Jiddeke M ; van Spaendonck-Zwarts, Karin Y ; Die-Smulders, Christine de ; Brilstra, Eva H ; Verschuuren, Corien C ; de Vries, Bert B A ; Bruijn, Jacques ; Sofou, Kalliopi ; Duijkers, Floor A ; Jaeger, B ; Schieving, Jolanda H ; van de Warrenburg, Bart P ; Kamsteeg, Erik-JanPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.40-49View 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:Chiba, Kyoko ; Takahashi, Hironori ; Chen, Min ; Obinata, Hiroyuki ; Arai, Shogo ; Hashimoto, Koichi ; Oda, Toshiyuki ; McKenney, Richard J. ; Niwa, ShinsukePublisher:United States: National Academy of SciencesJournal title:Proceedings of the National Academy of Sciences - PNAS, 2019-09, Vol.116 (37), p.18429-18434View 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, Xin ; Dong, Thomas ; Hu, Yuhui ; De Pace, Raffaella ; Mattera, Rafael ; Eberhardt, Kathrin ; Ziegler, Marvin ; Pirovolakis, Terry ; Sahin, Mustafa ; Bonifacino, Juan S. ; Ebrahimi-Fakhari, Darius ; Gray, Steven J.Publisher:United States: American Society for Clinical InvestigationJournal title:The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16View 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:Varga, Rita-Eva ; Khundadze, Mukhran ; Damme, Markus ; Nietzsche, Sandor ; Hoffmann, Birgit ; Stauber, Tobias ; Koch, Nicole ; Hennings, J. Christopher ; Franzka, Patricia ; Huebner, Antje K. ; Kessels, Michael M. ; Biskup, Christoph ; Jentsch, Thomas J. ; Qualmann, Britta ; Braulke, Thomas ; Kurth, Ingo ; Beetz, Christian ; Hübner, Christian A.Publisher:United States: Public Library of ScienceJournal title:PLoS genetics, 2015-08, Vol.11 (8), p.e1005454-e1005454View 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:Schreij, Andrea M. A. ; Fon, Edward A. ; McPherson, Peter S.Publisher:Cham: Springer International PublishingJournal title:Cellular and molecular life sciences : CMLS, 2016-04, Vol.73 (8), p.1529-1545View 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:Murala, Sireesha ; Nagarajan, Elanagan ; Bollu, Pradeep C.Publisher:Cham: Springer International PublishingJournal title:Neurological sciences, 2021-03, Vol.42 (3), p.883-894View 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:Hirst, Jennifer ; Itzhak, Daniel N. ; Antrobus, Robin ; Borner, Georg H. H. ; Robinson, Margaret S.Publisher:United States: Public Library of ScienceJournal title:PLoS biology, 2018-01, Vol.16 (1), p.e2004411-e2004411View 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:Meyyazhagan, Arun ; Basavaraju, Preethi ; Miele, Marialuisa ; Kawarai, Toshitaka ; Panza, Emanuele ; Orlacchio, AntonioPublisher:United StatesJournal title:Alzheimer's & dementia, 2024-12, Vol.20 Suppl 1, p.e089719View 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:Boutry, Maxime ; Morais, Sara ; Stevanin, GiovanniPublisher:New York: Springer USJournal title:Current neurology and neuroscience reports, 2019-04, Vol.19 (4), p.18-19, Article 18View 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:van de Warrenburg, Bart P ; Schouten, Meyke I ; de Bot, Susanne T ; Vermeer, Sascha ; Meijer, Rowdy ; Pennings, Maartje ; Gilissen, Christian ; Willemsen, Michèl AAP ; Scheffer, Hans ; Kamsteeg, Erik-JanPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1460-1466View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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