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Books
Author / Creator:Dobkin de Rios, Marlene.
Publisher:Westport, Conn. : Praeger, 2008.
Date:2008.
Call Numbers:N394.14/21
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BooksPublisher:Beverly Hills : Sage Publications, c1976.Export record to excel
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BooksAuthor / Creator:Beaton, Cecil, 1904-1980.Publisher:New York : Alfred A. Knopf, 2003.Edition:1st American ed.Date:2003.Call Numbers:N770.92/11For use in the LibraryExport record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Nicolle, Romain ; Siquier-Pernet, Karine ; Rio, Marlène ; Guimier, Anne ; Ollivier, Emmanuelle ; Nitschke, Patrick ; Bole-Feysot, Christine ; Romana, Serge ; Hastie, Alex ; Cantagrel, Vincent ; Malan, ValériePublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2022-06, Vol.30 (6), p.712-720View 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:Hennocq, Quentin ; Willems, Marjolaine ; Amiel, Jeanne ; Arpin, Stéphanie ; Attie-Bitach, Tania ; Bongibault, Thomas ; Bouygues, Thomas ; Cormier-Daire, Valérie ; Corre, Pierre ; Dieterich, Klaus ; Douillet, Maxime ; Feydy, Jean ; Galliani, Eva ; Giuliano, Fabienne ; Lyonnet, Stanislas ; Picard, Arnaud ; Porntaveetus, Thantrira ; Rio, Marlène ; Rouxel, Flavien ; Shotelersuk, Vorasuk ; Toutain, Annick ; Yauy, Kevin ; Geneviève, David ; Khonsari, Roman H. ; Garcelon, NicolasPublisher:London: Nature Publishing Group UKJournal title:Scientific reports, 2024-01, Vol.14 (1), p.2330-15, Article 2330View 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:Vegas, Nancy ; Rio, Marlène ; Adnot, Pauline ; Soupre, Véronique ; Petit, Florence ; Ghoumid, Jamal ; Toutain, Annick ; Dieterich, Klaus ; Marey, Isabelle ; Gilbert-Dussardier, Brigitte ; Le Guyader, Gwenaël ; Francannet, Christine ; Schaefer, Elise ; Perrin, Laurence ; Nizon, Mathilde ; Beneteau, Claire ; Genevieve, David ; Willems, Marjolaine ; Faivre, Laurence ; Grimaldi, Marianne ; Melki, Judith ; Stoeva, Radka ; Putoux, Audrey ; Pons, Linda ; Benistan, Karelle ; Amiel, Jeanne ; Abadie, VéroniquePublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2025-06, Vol.20 (1), p.278-14View 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:Hashimoto, Satoru ; Boissel, Sarah ; Zarhrate, Mohammed ; Rio, Marlène ; Munnich, Arnold ; Egly, Jean-Marc ; Colleaux, LaurencePublisher:Washington, DC: American Association for the Advancement of ScienceJournal title:Science (American Association for the Advancement of Science), 2011-08, Vol.333 (6046), p.1161-1163View 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:Barcia, Giulia ; Rio, Marlène ; Assouline, Zahra ; Zangarelli, Coralie ; Roux, Charles-Joris ; de Lonlay, Pascale ; Steffann, Julie ; Desguerre, Isabelle ; Munnich, Arnold ; Bonnefont, Jean-Paul ; Boddaert, Nathalie ; Rötig, Agnès ; Metodiev, Metodi D. ; Ruzzenente, BenedettaPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.533-538View 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:Hubert, Laurence ; Cannata Serio, Magda ; Villoing-Gaudé, Laure ; Boddaert, Nathalie ; Kaminska, Anna ; Rio, Marlène ; Lyonnet, Stanislas ; Munnich, Arnold ; Poirier, Karine ; Simons, Matias ; Besmond, ClaudePublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2020-02, Vol.57 (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:Metodiev, Metodi Dimitrov ; Gerber, Sylvie ; Hubert, Laurence ; Delahodde, Agnès ; Chretien, Dominique ; Gérard, Xavier ; Amati-Bonneau, Patrizia ; Giacomotto, Marie-Christine ; Boddaert, Nathalie ; Kaminska, Anna ; Desguerre, Isabelle ; Amiel, Jeanne ; Rio, Marlène ; Kaplan, Josseline ; Munnich, Arnold ; Rötig, Agnès ; Rozet, Jean Michel ; Besmond, ClaudePublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2014-12, Vol.51 (12), p.834-838View 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:Nicolle, Romain ; Altin, Nami ; Siquier-Pernet, Karine ; Salignac, Sherlina ; Blanc, Pierre ; Munnich, Arnold ; Bole-Feysot, Christine ; Malan, Valérie ; Caron, Barthélémy ; Nitschké, Patrick ; Desguerre, Isabelle ; Boddaert, Nathalie ; Rio, Marlène ; Rausell, Antonio ; Cantagrel, VincentPublisher:England: BioMed Central LtdJournal title:BMC medical genomics, 2023-06, Vol.16 (1), p.143-143, Article 143View 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:Gerber, Sylvie ; Ding, Martina G ; Gérard, Xavier ; Zwicker, Klaus ; Zanlonghi, Xavier ; Rio, Marlène ; Serre, Valérie ; Hanein, Sylvain ; Munnich, Arnold ; Rotig, Agnès ; Bianchi, Lucas ; Amati-Bonneau, Patrizia ; Elpeleg, Orly ; Kaplan, Josseline ; Brandt, Ulrich ; Rozet, Jean-MichelPublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2017-05, Vol.54 (5), p.346-356View 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:Nguyen, Lam Son ; Schneider, Taiane ; Rio, Marlène ; Moutton, Sébastien ; Siquier-Pernet, Karine ; Verny, Florine ; Boddaert, Nathalie ; Desguerre, Isabelle ; Munich, Arnold ; Rosa, José Luis ; Cormier-Daire, Valérie ; Colleaux, LaurencePublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.455-458View 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:Rouxel, Flavien ; Yauy, Kevin ; Boursier, Guilaine ; Gatinois, Vincent ; Barat-Houari, Mouna ; Sanchez, Elodie ; Lacombe, Didier ; Arpin, Stéphanie ; Giuliano, Fabienne ; Haye, Damien ; Rio, Marlène ; Toutain, Annick ; Dieterich, Klaus ; Brischoux-Boucher, Elise ; Julia, Sophie ; Nizon, Mathilde ; Afenjar, Alexandra ; Keren, Boris ; Jacquette, Aurelia ; Moutton, Sebastien ; Jacquemont, Marie-Line ; Duflos, Claire ; Capri, Yline ; Amiel, Jeanne ; Blanchet, Patricia ; Lyonnet, Stanislas ; Sanlaville, Damien ; Genevieve, DavidPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2022-06, Vol.30 (6), p.682-686View 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:Geoffron, Sophie ; Abi Habib, Walid ; Chantot-Bastaraud, Sandra ; Dubern, Béatrice ; Steunou, Virginie ; Azzi, Salah ; Afenjar, Alexandra ; Busa, Tiffanny ; Canton, Ana P ; Chalouhi, Christel ; Dufourg, Marie-Noëlle ; Esteva, Blandine ; Fradin, Mélanie ; Geneviève, David ; Heide, Solveig ; Isidor, Bertrand ; Linglart, Agnès ; Morice Picard, Fanny ; Naud-Saudreau, Catherine ; Oliver Petit, Isabelle ; Philip, Nicole ; Pienkowski, Catherine ; Rio, Marlène ; Rossignol, Sylvie ; Tauber, Maithé ; Thevenon, Julien ; Vu-Hong, Thuy-Ai ; Harbison, Madeleine D ; Salem, Jennifer ; Brioude, Frédéric ; Netchine, Irène ; Giabicani, EloïsePublisher:United States: Copyright Oxford University PressJournal title:The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2436-2446View 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:Pennisi, Alessandra ; Rötig, Agnès ; Roux, Charles-Joris ; Lévy, Raphaël ; Henneke, Marco ; Gärtner, Jutta ; Teke Kisa, Pelin ; Sarioglu, Fatma Ceren ; Yiş, Uluç ; Konczal, Laura L ; Burkardt, Deepika D ; Wu, Sulin ; Gaignard, Pauline ; Besmond, Claude ; Hubert, Laurence ; Rio, Marlène ; Barcia, Giulia ; Munnich, Arnold ; Boddaert, Nathalie ; Schiff, ManuelPublisher:England: BMJ Publishing Group LtdJournal title:Journal of medical genetics, 2022-02, Vol.59 (2), p.204-208View 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:Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B. ; Wheeler, Patricia G. ; Haynes, Devon ; Juusola, Jane ; Billette de Villemeur, Thierry ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, MatiasPublisher:United States: Public Library of ScienceJournal title:PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386View 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:Mircsof, Dennis ; Langouët, Maéva ; Rio, Marlène ; Moutton, Sébastien ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Cagnard, Nicolas ; Nitschke, Patrick ; Gaspar, Ludmila ; Žnidarič, Matej ; Alibeu, Olivier ; Fritz, Ann-Kristina ; Wolfer, David P ; Schröter, Aileen ; Bosshard, Giovanna ; Rudin, Markus ; Koester, Christina ; Crestani, Florence ; Seebeck, Petra ; Boddaert, Nathalie ; Prescott, Katrina ; Hines, Rochelle ; Moss, Steven J ; Fritschy, Jean-Marc ; Munnich, Arnold ; Amiel, Jeanne ; Brown, Steven A ; Tyagarajan, Shiva K ; Colleaux, LaurencePublisher:New York: Nature Publishing Group USJournal title:Nature neuroscience, 2015-12, Vol.18 (12), p.1731-1736View 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:Vachin, Pauline ; Adda-Herzog, Elodie ; Chalouhi, Gihad ; Elie, Caroline ; Rio, Marlène ; Rondeau, Sophie ; Gigarel, Nadine ; Jabot Hanin, Fabienne ; Monnot, Sophie ; Borghese, Roxana ; Bengoa, Joana ; Ville, Yves ; Rotig, Agnes ; Munnich, Arnold ; Bonnefont, Jean-Paul ; Steffann, JuliePublisher:England: BMJ Publishing Group LTDJournal title:Journal of medical genetics, 2018-02, Vol.55 (2), p.131-136View 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:Collet, Marie ; Assouline, Zahra ; Bonnet, Damien ; Rio, Marlène ; Iserin, Franck ; Sidi, Daniel ; Goldenberg, Alice ; Lardennois, Caroline ; Metodiev, Metodi Dimitrov ; Haberberger, Birgit ; Haack, Tobias ; Munnich, Arnold ; Prokisch, Holger ; Rötig, AgnèsPublisher:England: Nature Publishing GroupJournal title:European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1112-1116View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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