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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: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:Kim, Eun Ju ; Lee, Dong Hun ; Kim, Yeon Kyung ; Eun, Hee Chul ; Chung, Jin HoPublisher:United States: Elsevier IncJournal title:Journal of investigative dermatology, 2015-09, Vol.135 (9), p.2331-2334View 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:Luciani, Alessandro ; Schumann, Anke ; Berquez, Marine ; Chen, Zhiyong ; Nieri, Daniela ; Failli, Mario ; Debaix, Huguette ; Festa, Beatrice Paola ; Tokonami, Natsuko ; Raimondi, Andrea ; Cremonesi, Alessio ; Carrella, Diego ; Forny, Patrick ; Kölker, Stefan ; Diomedi Camassei, Francesca ; Diaz, Francisca ; Moraes, Carlos T. ; Di Bernardo, Diego ; Baumgartner, Matthias R. ; Devuyst, OlivierPublisher:London: Nature Publishing Group UKJournal title:Nature communications, 2020-02, Vol.11 (1), p.970-970, Article 970View 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:Janeiro, Patrícia ; Jotta, Rita ; Ramos, Ruben ; Florindo, Cristina ; Ventura, Fátima V. ; Vilarinho, Laura ; Tavares de Almeida, Isabel ; Gaspar, AnaPublisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:European journal of pediatrics, 2019-03, Vol.178 (3), p.387-394View 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:Almási, Tímea ; Guey, Lin T ; Lukacs, Christine ; Csetneki, Kata ; Vokó, Zoltán ; Zelei, TamásPublisher:England: BioMed CentralJournal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.84-84, Article 84View 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:Peng, Gang ; Shen, Peidong ; Gandotra, Neeru ; Le, Anthony ; Fung, Eula ; Jelliffe-Pawlowski, Laura ; Davis, Ronald W. ; Enns, Gregory M. ; Zhao, Hongyu ; Cowan, Tina M. ; Scharfe, CurtPublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2019-04, Vol.21 (4), p.896-903View 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:Wortmann, Saskia B. ; Kluijtmans, Leo A. J. ; Rodenburg, Richard J. ; Sass, Jörn Oliver ; Nouws, Jessica ; van Kaauwen, Edwin P. ; Kleefstra, Tjitske ; Tranebjaerg, Lisbeth ; de Vries, Maaike C. ; Isohanni, Pirjo ; Walter, Katharina ; Alkuraya, Fowzan S. ; Smuts, Izelle ; Reinecke, Carolus J. ; van der Westhuizen, Francois H. ; Thorburn, David ; Smeitink, Jan A. M. ; Morava, Eva ; Wevers, Ron A.Publisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.913-921View 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:Zhu, Jingying ; Han, Li ; Yang, Pingjingwen ; Feng, Ziyi ; Xue, ShuyuanPublisher:United States: PeerJ. LtdJournal title:PeerJ (San Francisco, CA), 2024-12, Vol.12, p.e18173, Article e18173View 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:Schulze, Andreas ; Lindner, Martin ; Kohlmuller, Dirk ; Olgemoller, Katharina ; Mayatepek, Ertan ; Hoffmann, Georg FPublisher:Elk Grove Village, IL: Am Acad PediatricsJournal title:Pediatrics (Evanston), 2003-06, Vol.111 (6), p.1399-1406View 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:Bastin, Jean ; Bonnefont, Jean-Paul ; Djouadi, Fatima ; Bresson, Jean-LouisPublisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.371-372View 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:Ichida, Kimiyoshi ; Amaya, Yoshihiro ; Okamoto, Ken ; Nishino, TakeshiPublisher:Switzerland: MDPI AGJournal title:International journal of molecular sciences, 2012-11, Vol.13 (11), p.15475-15495View 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:Wassenberg, Tessa ; Molero-Luis, Marta ; Jeltsch, Kathrin ; Hoffmann, Georg F ; Assmann, Birgit ; Blau, Nenad ; Garcia-Cazorla, Angeles ; Artuch, Rafael ; Pons, Roser ; Pearson, Toni S ; Leuzzi, Vincenco ; Mastrangelo, Mario ; Pearl, Phillip L ; Lee, Wang Tso ; Kurian, Manju A ; Heales, Simon ; Flint, Lisa ; Verbeek, Marcel ; Willemsen, Michèl ; Opladen, ThomasPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.12-12, Article 12View 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:Jurecka, Agnieszka ; Zikanova, Marie ; Kmoch, Stanislav ; Tylki-Szymańska, AnnaPublisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.231-242View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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