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Books
Publisher:New York: Wiley-Liss, c1993.
Call Numbers:NQ616.77042/1
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BooksPublisher:Dietikon-Zürich : U. Graf, 1977-1991.Date:1977-1991.Call Numbers:TQ067538 , TQ067536 , TQ067540 , TQ067535 , TQ067537 , TQ067539For use in the LibraryExport record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Jeong, Jeeyon ; Walker, Joel M. ; Wang, Fudi ; Park, J. Genevieve ; Palmer, Amy E. ; Giunta, Cecilia ; Rohrbach, Marianne ; Steinmann, Beat ; Eide, David J.Publisher:United States: National Academy of SciencesJournal title:Proceedings of the National Academy of Sciences - PNAS, 2012-12, Vol.109 (51), p.E3530-E3538View 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:Hennies, Hans Christian ; Kornak, Uwe ; Zhang, Haikuo ; Egerer, Johannes ; Zhang, Xin ; Seifert, Wenke ; Kühnisch, Jirko ; Budde, Birgit ; Nätebus, Marc ; Brancati, Francesco ; Wilcox, William R ; Müller, Dietmar ; Kaplan, Paige B ; Rajab, Anna ; Zampino, Giuseppe ; Fodale, Valentina ; Dallapiccola, Bruno ; Newman, William ; Metcalfe, Kay ; Clayton-Smith, Jill ; Tassabehji, May ; Steinmann, Beat ; Barr, Francis A ; Nürnberg, Peter ; Wieacker, Peter ; Mundlos, StefanPublisher:New York: Nature Publishing Group USJournal title:Nature genetics, 2008-12, Vol.40 (12), p.1410-1412View 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:Schlotawa, Lars ; Ennemann, Eva Charlotte ; Radhakrishnan, Karthikeyan ; Schmidt, Bernhard ; Chakrapani, Anupam ; Christen, Hans-Jürgen ; Moser, Hugo ; Steinmann, Beat ; Dierks, Thomas ; Gärtner, JuttaPublisher:Cham: Springer International PublishingJournal title:European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.253-261View 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:Mátyás, Gábor ; Alonso, Sira ; Patrignani, Andrea ; Marti, Myriam ; Arnold, Eliane ; Magyar, István ; Henggeler, Caroline ; Carrel, Thierry ; Steinmann, Beat ; Berger, WolfgangPublisher:Heidelberg: SpringerJournal title:Human genetics, 2007-08, Vol.122 (1), p.23-32View 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:Arikyants, Nina ; Sarkissian, Ashot ; Hesse, Albrecht ; Eggermann, Thomas ; Leumann, Ernst ; Steinmann, BeatPublisher:Germany: SpringerJournal title:Pediatric nephrology (Berlin, West), 2007-02, Vol.22 (2), p.310-314View 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:Balmer, Christian ; Ballhausen, Diana ; Bosshard, Nils U. ; Steinmann, Beat ; Boltshauser, Eugen ; Bauersfeld, Urs ; Superti-Furga, AndreaPublisher:Heidelberg: SpringerJournal title:European journal of pediatrics, 2005-08, Vol.164 (8), p.509-514View 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:Steinmann, BeatPublisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:European journal of pediatrics, 2014-06, Vol.173 (6), p.695-697View 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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ReviewsPeer ReviewedFull TextAuthor / Creator:Wordsworth, PaulPublisher:Boston: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 2003, Vol.348 (22), p.2268View 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:Tsipouras, Petros ; Del Mastro, Richard ; Sarfarazi, Mansoor ; Lee, Brendan ; Vitale, Emilia ; Child, Anne H ; Godfrey, Maurice ; Devereux, Richard B ; Hewett, Duncan ; Steinmann, Beat ; Viljoen, Denis ; Sykes, Bryan C ; Kilpatrick, Michael ; Ramirez, FrancescoPublisher:Boston: Massachusetts Medical SocietyJournal title:The New England journal of medicine, 1992-04, Vol.326 (14), p.905-909View 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:Mayer, Karin ; Kennerknecht, Ingo ; Steinmann, BeatPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.118-118View 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:Afroze, Bushra ; Yunus, Zabedah ; Steinmann, Beat ; Santer, RenéPublisher:Berlin/Heidelberg: Springer Berlin HeidelbergJournal title:European journal of pediatrics, 2013-09, Vol.172 (9), p.1249-1253View 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:Santer, René ; du Moulin, Marcel ; Shahinyan, Tatevik ; Vater, Inga ; Maier, Esther ; Muntau, Ania C. ; Steinmann, BeatPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2016-04, Vol.11 (1), p.44-44, Article 44View 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:Mátyás, Gábor ; Arnold, Eliane ; Carrel, Thierry ; Baumgartner, Daniela ; Boileau, Catherine ; Berger, Wolfgang ; Steinmann, BeatPublisher:Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyJournal title:Human mutation, 2006-08, Vol.27 (8), p.760-769View 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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ArticlesFull TextAuthor / Creator:Zahid, Maya ; Khan, Aysha Habib ; Yunus, Zabedah Md ; Chen, Bee Chin ; Steinmann, Beat ; Johannes, Haberle ; Afroze, BushraPublisher:Pakistan: Knowledge BylanesJournal title:Journal of the Pakistan Medical Association, 2019-03, Vol.69 (3), p.432-436View 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:Huemer, Martina ; Mulder-Bleile, Regina ; Burda, Patricie ; Froese, D. Sean ; Suormala, Terttu ; Zeev, Bruria Ben ; Chinnery, Patrick F. ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Gökcay, Gülden ; Demirkol, Mübeccel ; Häberle, Johannes ; Lossos, Alexander ; Mengel, Eugen ; Morris, Andrew A. ; Niezen-Koning, Klary E. ; Plecko, Barbara ; Parini, Rossella ; Rokicki, Dariusz ; Schiff, Manuel ; Schimmel, Mareike ; Sewell, Adrian C. ; Sperl, Wolfgang ; Spiekerkoetter, Ute ; Steinmann, Beat ; Taddeucci, Grazia ; Trejo-Gabriel-Galán, Jose M. ; Trefz, Friedrich ; Tsuji, Megumi ; Vilaseca, María Antònia ; von Kleist-Retzow, Jürgen-Christoph ; Walker, Valerie ; Zeman, Jiri ; Baumgartner, Matthias R. ; Fowler, BrianPublisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.115-124View 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:Giunta, Cecilia ; Steinmann, BeatPublisher:GermanyJournal title:Human genetics, 2008-06, Vol.123 (5), p.540-540View 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:Mayer, Karin ; Kennerknecht, Ingo ; Steinmann, BeatPublisher:Cham: Springer International PublishingJournal title:European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1071-1071View 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:Collod‐Béroud, Gwenaëlle ; Le Bourdelles, Saga ; Ades, Lesley ; Ala‐Kokko, Leena ; Booms, Patrick ; Boxer, Maureen ; Child, Anne ; Comeglio, Paolo ; De Paepe, Anne ; Hyland, James C. ; Holman, Katerine ; Kaitila, Ilkka ; Loeys, Bart ; Matyas, Gabor ; Nuytinck, Lieve ; Peltonen, Leena ; Rantamaki, Terhi ; Robinson, Peter ; Steinmann, Beat ; Junien, Claudine ; Béroud, Christophe ; Boileau, CatherinePublisher:Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyJournal title:Human mutation, 2003-09, Vol.22 (3), p.199-208View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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