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Books
Publisher:Hoboken, N.J. : Wiley-Liss, c2005.
Edition:2nd ed.
Call Numbers:NQ616.042/13
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ArticlesPeer ReviewedFull TextAuthor / Creator:Kamath, Binita Maya ; Bauer, Robert C ; Loomes, Kathleen M ; Chao, Grace ; Gerfen, Jennifer ; Hutchinson, Anne ; Hardikar, Winita ; Hirschfield, Gideon ; Jara, Paloma ; Krantz, Ian D ; Lapunzina, Pablo ; Leonard, Laura ; Ling, Simon ; Ng, Vicky Lee ; Hoang, Phuc Le ; Piccoli, David A ; Spinner, Nancy BettinaPublisher:London: BMJ Publishing Group LtdJournal title:Journal of medical genetics, 2012-02, Vol.49 (2), p.138-144View 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:Chitayat, David ; Kamath, Binita ; Saleh, MahaPublisher:New Zealand: Dove Medical Press LimitedJournal title:Application of clinical genetics, 2016-01, Vol.9, p.75-82View 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:Turnpenny, Peter D ; Ellard, SianPublisher:Cham: Springer International PublishingJournal title:European journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.251-257View 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:Gonzales, Emmanuel ; Hardikar, Winita ; Stormon, Michael ; Baker, Alastair ; Hierro, Loreto ; Gliwicz, Dorota ; Lacaille, Florence ; Lachaux, Alain ; Sturm, Ekkehard ; Setchell, Kenneth D R ; Kennedy, Ciara ; Dorenbaum, Alejandro ; Steinmetz, Jana ; Desai, Nirav K ; Wardle, Andrew J ; Garner, Will ; Vig, Pamela ; Jaecklin, Thomas ; Sokal, Etienne M ; Jacquemin, EmmanuelPublisher:England: Elsevier LtdJournal title:The Lancet (British edition), 2021-10, Vol.398 (10311), p.1581-1592View 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:Herceg, Stjepan ; Dilber, Daniel ; Šarić, Dalibor ; Bartoniček, Dorotea ; Mihalec, Marina ; Frković, Sanda Huljev ; Belina, Dražen ; Đurić, Željko ; Planinc, MislavPublisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthJournal title:Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A81-A82View 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:Hankeova, Simona ; Van Hul, Noemi ; Laznovsky, Jakub ; Verboven, Elisabeth ; Mangold, Katrin ; Hensens, Naomi ; Adori, Csaba ; Verhoef, Elvira ; Zikmund, Tomas ; Dawit, Feven ; Kavkova, Michaela ; Salplachta, Jakub ; Sjöqvist, Marika ; Johansson, Bengt R ; Hassan, Mohamed G ; Fredriksson, Linda ; Baumgärtel, Karsten ; Bryja, Vitezslav ; Lendahl, Urban ; Jheon, Andrew ; Alten, Florian ; Fahnehjelm, Kristina Teär ; Fischler, Björn ; Kaiser, Jozef ; Andersson, Emma RPublisher:London: Nature Publishing Group UKJournal title:EMBO molecular medicine, 2022-12, Vol.14 (12), p.e15809-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:Krantz, I D ; Piccoli, D A ; Spinner, N BPublisher:London: BMJ Publishing Group LtdJournal title:Journal of medical genetics, 1997-02, Vol.34 (2), p.152-157View 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:Menon, Jagadeesh ; Shanmugam, Naresh ; Vij, Mukul ; Rammohan, Ashwin ; Rela, MohamedPublisher:New Zealand: Dove Medical Press LimitedJournal title:Journal of multidisciplinary healthcare, 2022-01, Vol.15, p.353-364View 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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Reference EntriesFull TextAuthor / Creator:Davidson, Tish ; Eubanks, SonjaJournal title:The Gale Encyclopedia of Genetic Disorders: A-F, 2022, p.78-81View 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, Ying ; Sun, Mei ; Teng, XuPublisher:England: BioMed Central LtdJournal title:BMC pediatrics, 2022-11, Vol.22 (1), p.688-688, Article 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:Ćuk, Matea Crnković ; Perše, Barbara ; Matijević, Petra ; Žaja, OrjenaPublisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthJournal title:Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A104-A105View 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:Micaglio, Emanuele ; Andronache, Andreea Alina ; Carrera, Paola ; Monasky, Michelle M. ; Locati, Emanuela T. ; Pirola, Barbara ; Presi, Silvia ; Carminati, Mario ; Ferrari, Maurizio ; Giamberti, Alessandro ; Pappone, CarloPublisher:Switzerland: MDPI AGJournal title:International journal of molecular sciences, 2019-12, Vol.20 (24), p.6247View 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:Ayoub, Mohammed D. ; Kamath, Binita M.Publisher:MDPIJournal title:Diagnostics (Basel), 2020-11, Vol.10 (11), p.907View 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:Semenova, Natalia ; Kamenets, Elena ; Annenkova, Eleonora ; Marakhonov, Andrey ; Gusarova, Elena ; Demina, Nina ; Guseva, Daria ; Anisimova, Inga ; Degtyareva, Anna ; Taran, Natalia ; Strokova, Tatiana ; Zakharova, EkaterinaPublisher:Switzerland: MDPI AGJournal title:International journal of molecular sciences, 2023-07, Vol.24 (14), p.11758View 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:Rapp, Jordan B. ; Bellah, Richard D. ; Maya, Carolina ; Pawel, Bruce R. ; Anupindi, Sudha A.Publisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:Pediatric radiology, 2017-02, Vol.47 (2), p.197-204View 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:Shneider, Benjamin L. ; Spino, Cathie ; Kamath, Binita M. ; Magee, John C. ; Bass, Lee M. ; Setchell, Kenneth D. ; Miethke, Alexander ; Molleston, Jean P. ; Mack, Cara L. ; Squires, Robert H. ; Murray, Karen F. ; Loomes, Kathleen M. ; Rosenthal, Philip ; Karpen, Saul J. ; Leung, Daniel H. ; Guthery, Stephen L. ; Thomas, Danny ; Sherker, Averell H. ; Sokol, Ronald J.Publisher:United States: Wolters Kluwer Health Medical Research, Lippincott Williams & WilkinsJournal title:Hepatology communications, 2018-10, Vol.2 (10), p.1184-1198View 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:Feng, Xiufang ; Ping, Jiangyuan ; Gao, Shan ; Han, Dong ; Song, Wenxia ; Li, Xiaoze ; Tao, Yilun ; Wang, LihongPublisher:London: Nature Publishing Group UKJournal title:Scientific reports, 2024-01, Vol.14 (1), p.1812-1812, Article 1812View 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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Reference EntriesFull TextAuthor / Creator:Eubanks, Sonja ; Alic, MargaretJournal title:The Gale Encyclopedia of Children's Health : Infancy through Adolescence: A-B, 2021, p.76-79View 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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Reference EntriesFull TextAuthor / Creator:Eubanks, Sonja ; Alic, MargaretJournal title:The Gale Encyclopedia of Children's Health : Infancy through Adolescence: A-B, 2021, p.76-79View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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