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Journals
Publisher:Thousand Oaks, CA : Sage Publications, [2013]-
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BooksAuthor / Creator:National Research Council (U.S.). Committee for the Study of Inborn Errors of Metabolism.Publisher:Washington : National Academy of Sciences, 1975.Date:1975.Call Numbers:T0282676For use in the LibraryExport record to excel
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JournalsPublisher:[Dordrecht] : Kluwer Academic PublishersDordrecht : SpringerOxford : John Wiley & Sons LtdExport record to excel
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BooksPublisher:Detroit, MI : Omnigraphics, c2007.Edition:2nd ed.Call Numbers:G 2014/2078For use in the LibraryExport record to excel
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BooksAuthor / Creator:National Organization for Rare Disorders.Publisher:Philadelphia : Lippincott Williams & Wilkins, c2002.Call Numbers:TQ074348For use in the LibraryExport record to excel
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BooksAuthor / Creator:Mange, Elaine Johansen.Publisher:Sunderland, Mass. : Sinauer Associates, c1994.Call Numbers:TQ067984For use in the LibraryExport record to excel
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BooksAuthor / Creator:Fuller, Matthew.Publisher:Cambridge, Mass. : MIT Press, c2012.Call Numbers:N006.754/5For use in the LibraryExport record to excel
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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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BooksAuthor / Creator:Aalseth, Patricia.Publisher:Burlington, MA. : Jones & Bartlett Learning, 2015, [i.e. 2014].Edition:2nd edition.Date:2015, [i.e. 2014].Call Numbers:G 2014/4970For use in the LibraryExport record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Kirkegaard, Thomas ; Roth, Anke G. ; Petersen, Nikolaj H. T. ; Mahalka, Ajay K. ; Olsen, Ole Dines ; Moilanen, Irina ; Zylicz, Alicja ; Knudsen, Jens ; Sandhoff, Konrad ; Arenz, Christoph ; Kinnunen, Paavo K. J. ; Nylandsted, Jesper ; Jäättelä, MarjaPublisher:London: Nature Publishing Group UKJournal title:Nature (London), 2010-01, Vol.463 (7280), p.549-553View 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:Emond, Mary J ; Louie, Tin ; Emerson, Julia ; Zhao, Wei ; Mathias, Rasika A ; Knowles, Michael R ; Wright, Fred A ; Rieder, Mark J ; Tabor, Holly K ; Nickerson, Deborah A ; Barnes, Kathleen C ; Gibson, Ronald L ; Bamshad, Michael JPublisher:New York: Nature Publishing Group USJournal title:Nature genetics, 2012-08, Vol.44 (8), p.886-889View 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:Almannai, Mohammed ; Alfadhel, Majid ; El-Hattab, Ayman W.Publisher:Switzerland: MDPI AGJournal title:Molecules (Basel, Switzerland), 2019-09, Vol.24 (18), p.3251View 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:Ferreira, Carlos R. ; van Karnebeek, Clara D.M. ; Vockley, Jerry ; Blau, NenadPublisher:New York: Elsevier IncJournal title:Genetics in medicine, 2019-01, Vol.21 (1), p.102-106View 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:Mosegaard, Signe ; Dipace, Graziana ; Bross, Peter ; Carlsen, Jasper ; Gregersen, Niels ; Olsen, Rikke Katrine JentoftPublisher:Switzerland: MDPI AGJournal title:International journal of molecular sciences, 2020-05, Vol.21 (11), p.3847View 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:Adhikari, Aashish N. ; Gallagher, Renata C. ; Wang, Yaqiong ; Currier, Robert J. ; Amatuni, George ; Bassaganyas, Laia ; Chen, Flavia ; Kundu, Kunal ; Kvale, Mark ; Mooney, Sean D. ; Nussbaum, Robert L. ; Randi, Savanna S. ; Sanford, Jeremy ; Shieh, Joseph T. ; Srinivasan, Rajgopal ; Sunderam, Uma ; Tang, Hao ; Vaka, Dedeepya ; Zou, Yangyun ; Koenig, Barbara A. ; Kwok, Pui-Yan ; Risch, Neil ; Puck, Jennifer M. ; Brenner, Steven E.Publisher:New York: Nature Publishing Group USJournal title:Nature medicine, 2020-09, Vol.26 (9), 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:Coene, Karlien L. M. ; Kluijtmans, Leo A. J. ; van der Heeft, Ed ; Engelke, Udo F. H. ; de Boer, Siebolt ; Hoegen, Brechtje ; Kwast, Hanneke J. T. ; van de Vorst, Maartje ; Huigen, Marleen C. D. G. ; Keularts, Irene M. L. W. ; Schreuder, Michiel F. ; van Karnebeek, Clara D. M. ; Wortmann, Saskia B. ; de Vries, Maaike C. ; Janssen, Mirian C. H. ; Gilissen, Christian ; Engel, Jasper ; Wevers, Ron A.Publisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.337-353View 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:Kremer, Laura S. ; Wortmann, Saskia B. ; Prokisch, HolgerPublisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.525-532View 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:Rinchik, Eugene M. ; Bultman, Scott J. ; Horsthemke, Bernhard ; Lee, Seung-Taek ; Strunk, Kathleen M. ; Spritz, Richard A. ; Avidano, Karen M. ; Jong, Michelle T. C. ; Nicholls, Robert D.Publisher:London: Nature PublishingJournal title:Nature (London), 1993-01, Vol.361 (6407), p.72-76View 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:Ferrero, Giovanni Battista ; Porta, Francesco ; Biamino, Elisa ; Mussa, Alessandro ; Garelli, Emanuela ; Chiappe, Francesca ; Veltri, Andrea ; Silengo, Margherita Cirillo ; Gennari, FabrizioPublisher:Heidelberg: SpringerJournal title:European journal of pediatrics, 2010-03, Vol.169 (3), p.369-372View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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