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Books
Publisher:Detroit, MI : Omnigraphics, c2007.
Edition:2nd ed.
Call Numbers:G 2014/2078
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BooksAuthor / Creator:Beattie, James Martin, 1868-Publisher:London : Rebman, 1908.Date:1908.Call Numbers:T0033297For use in the LibraryExport record to excel
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BooksPublisher:Amsterdam : Academic press inc, 2013.Amsterdam Academic Press [2013].Date:2013.Call Numbers:GQ 2013/1717For use in the LibraryExport record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Beyzaei, Zahra ; Shamsaeefar, Alireza ; Kazemi, Kurosh ; Nikeghbalian, Saman ; Bahador, Ali ; Dehghani, Masoud ; Malekhosseini, Seyed-Ali ; Geramizadeh, BitaPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.127-127, Article 127View 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:Rossi, Alessandro ; Oosterveer, Maaike H ; van Dijk, Theo H ; Bleeker, Aycha ; Koehorst, Martijn ; Weinstein, David A ; Bakker, Barbara M ; Derks, Terry G JPublisher:US: Oxford University PressJournal title:The journal of clinical endocrinology and metabolism, 2024-02, Vol.109 (2), p.389-401View 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:Kishnani, Priya S. ; Goldstein, Jennifer ; Austin, Stephanie L. ; Arn, Pamela ; Bachrach, Bert ; Bali, Deeksha S. ; Chung, Wendy K. ; El-Gharbawy, Areeg ; Brown, Laurie M. ; Kahler, Stephen ; Pendyal, Surekha ; Ross, Katalin M. ; Tsilianidis, Laurie ; Weinstein, David A. ; Watson, Michael S.Publisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2019-04, Vol.21 (4), p.772-789View 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:Cao, Jingsong ; Choi, Minjung ; Guadagnin, Eleonora ; Soty, Maud ; Silva, Marine ; Verzieux, Vincent ; Weisser, Edward ; Markel, Arianna ; Zhuo, Jenny ; Liang, Shi ; Yin, Ling ; Frassetto, Andrea ; Graham, Anne-Renee ; Burke, Kristine ; Ketova, Tatiana ; Mihai, Cosmin ; Zalinger, Zach ; Levy, Becca ; Besin, Gilles ; Wolfrom, Meredith ; Tran, Barbara ; Tunkey, Christopher ; Owen, Erik ; Sarkis, Joe ; Dousis, Athanasios ; Presnyak, Vladimir ; Pepin, Christopher ; Zheng, Wei ; Ci, Lei ; Hard, Marjie ; Miracco, Edward ; Rice, Lisa ; Nguyen, Vi ; Zimmer, Mike ; Rajarajacholan, Uma ; Finn, Patrick F. ; Mithieux, Gilles ; Rajas, Fabienne ; Martini, Paolo G. V. ; Giangrande, Paloma H.Publisher:London: Nature Publishing Group UKJournal title:Nature communications, 2021-05, Vol.12 (1), p.3090-14, Article 3090View 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:Parezanovic, Marina ; Stevanovic, Nina ; Andjelkovic, Marina ; Ugrin, Milena ; Pavlovic, Sonja ; Stojiljkovic, Maja ; Skakic, AnitaPublisher:United States: John Wiley & Sons, IncJournal title:Molecular genetics & genomic medicine, 2025-01, Vol.13 (1), p.e70054-n/aView 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:Ahn, Jhii-Hyun ; Jeong, Yong Whi ; Choi, Yong Bok ; Kang, YunkooPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2025-03, Vol.20 (1), p.144-8, Article 144View 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:Chou, Janice Y. ; Jun, Hyun Sik ; Mansfield, Brian C.Publisher:London: Nature Publishing Group UKJournal title:Nature reviews. Endocrinology, 2010-12, Vol.6 (12), p.676-688View 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:Wolfsdorf, Joseph I ; Weinstein, David APublisher:Germany: Springer Nature B.VJournal title:Reviews in endocrine & metabolic disorders, 2003-03, Vol.4 (1), p.95-102View 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:Koca, Serkan Bilge ; Polat, Emine ; Bayram, Bahtisen ; Urel, Gizem ; Senel, Saliha ; Okur, IlyasPublisher:Galenos Yayinevi Tic. LtdJournal title:Güncel pediatri, 2014-08, Vol.12 (2), p.131View 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:Kalra, Nikhita ; Kalra, Tanisha ; Sudharsan, Venkatesh Vaithiyam ; Sonika, Ujjwal ; Srivastava, Siddharth ; Chander Sharma, BarjeshPublisher:Philadelphia, PA: Wolters KluwerJournal title:The American journal of gastroenterology, 2023-10, Vol.118 (10S), p.S2407-S2407View 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:Sentner, Christiaan P. ; Hoogeveen, Irene J. ; Weinstein, David A. ; Santer, René ; Murphy, Elaine ; McKiernan, Patrick J. ; Steuerwald, Ulrike ; Beauchamp, Nicholas J. ; Taybert, Joanna ; Laforêt, Pascal ; Petit, François M. ; Hubert, Aurélie ; Labrune, Philippe ; Smit, G. Peter A. ; Derks, Terry G. J.Publisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.697-704View 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:Jain, Suhani ; Shah, IraPublisher:Pediatric OncallJournal title:Pediatriconcall : a complete child health care, 2024, Vol.21 (1)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:Kishnani, Priya S. ; Austin, Stephanie L. ; Abdenur, Jose E. ; Arn, Pamela ; Bali, Deeksha S. ; Boney, Anne ; Chung, Wendy K. ; Dagli, Aditi I. ; Dale, David ; Koeberl, Dwight ; Somers, Michael J. ; Burns Wechsler, Stephanie ; Weinstein, David A. ; Wolfsdorf, Joseph I. ; Watson, Michael S.Publisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2014-11, Vol.16 (11), p.e1-e1View 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:Rossi, Alessandro ; Venema, Annieke ; Haarsma, Petra ; Feldbrugge, Lude ; Burghard, Rob ; Rodriguez-Buritica, David ; Parenti, Giancarlo ; Oosterveer, Maaike H ; Derks, Terry G JPublisher:US: Oxford University PressJournal title:The journal of clinical endocrinology and metabolism, 2022-09, Vol.107 (9), p.e3612-e3623View 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:Rodriguez, Diana N.Publisher:Philadelphia, PA: Wolters KluwerJournal title:The American journal of gastroenterology, 2022-10, Vol.117 (10S), p.e1932-e1932View 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:Gay, Simon ; Bigot, Adrien ; d'Alteroche, Louis ; Dujardin, Fanny ; Fromont‐Hankard, Gaëlle ; Tressel, Nathalie ; Salame, Ephrem ; Maillot, FrançoisPublisher:Hoboken, USA: John Wiley & Sons, IncJournal title:JIMD reports, 2025-01, Vol.66 (1), p.e12463-n/aView 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:Monteiro, Vaneisse ; Colonetti, Karina ; Pagno, Carlos Henrique ; Schmidt, Helena OS ; Sperb-Ludwig, Fernanda ; Oliveira, Bibiana Mello de ; Poloni, Soraia ; Rios, Alessandro O ; de Souza, Carolina F Moura ; Schwartz, Ida Vanessa DoederleinPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.283-7, Article 283View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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