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	81.	Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. [electronic resource] by Briggs, Tracy A Rice, Gillian I Daly, Sarah Urquhart, Jill Gornall, Hannah Bader-Meunier, Brigitte Baskar, Kannan Baskar, Shankar Baudouin, Veronique Beresford, Michael W Black, Graeme C M Dearman, Rebecca J de Zegher, Francis Foster, Emily S Francès, Camille Hayman, Alison R Hilton, Emma Job-Deslandre, Chantal Kulkarni, Muralidhar L Le Merrer, Martine Linglart, Agnes Lovell, Simon C Maurer, Kathrin Musset, Lucile Navarro, Vincent Picard, Capucine Puel, Anne Rieux-Laucat, Frederic Roifman, Chaim M Scholl-Bürgi, Sabine Smith, Nigel Szynkiewicz, Marcin Wiedeman, Alice Wouters, Carine Zeef, Leo A H Casanova, Jean-Laurent Elkon, Keith B Janckila, Anthony Lebon, Pierre Crow, Yanick J Producer: 20110331 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. [electronic resource] by Köhler, Sebastian Doelken, Sandra C Mungall, Christopher J Bauer, Sebastian Firth, Helen V Bailleul-Forestier, Isabelle Black, Graeme C M Brown, Danielle L Brudno, Michael Campbell, Jennifer FitzPatrick, David R Eppig, Janan T Jackson, Andrew P Freson, Kathleen Girdea, Marta Helbig, Ingo Hurst, Jane A Jähn, Johanna Jackson, Laird G Kelly, Anne M Ledbetter, David H Mansour, Sahar Martin, Christa L Moss, Celia Mumford, Andrew Ouwehand, Willem H Park, Soo-Mi Riggs, Erin Rooney Scott, Richard H Sisodiya, Sanjay Van Vooren, Steven Wapner, Ronald J Wilkie, Andrew O M Wright, Caroline F Vulto-van Silfhout, Anneke T de Leeuw, Nicole de Vries, Bert B A Washingthon, Nicole L Smith, Cynthia L Westerfield, Monte Schofield, Paul Ruef, Barbara J Gkoutos, Georgios V Haendel, Melissa Smedley, Damian Lewis, Suzanna E Robinson, Peter N Producer: 20140317 In: Nucleic acids research vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. [electronic resource] by Johnston, Jennifer J Sapp, Julie C Turner, Joyce T Amor, David Aftimos, Salim Aleck, Kyrieckos A Bocian, Maureen Bodurtha, Joann N Cox, Gerald F Curry, Cynthia J Day, Ruth Donnai, Dian Field, Michael Fujiwara, Ikuma Gabbett, Michael Gal, Moran Graham, John M Hedera, Peter Hennekam, Raoul C M Hersh, Joseph H Hopkin, Robert J Kayserili, Hülya Kidd, Alexa M J Kimonis, Virginia Lin, Angela E Lynch, Sally Ann Maisenbacher, Melissa Mansour, Sahar McGaughran, Julie Mehta, Lakshmi Murphy, Helen Raygada, Margarita Robin, Nathaniel H Rope, Alan F Rosenbaum, Kenneth N Schaefer, G Bradley Shealy, Amy Smith, Wendy Soller, Maria Sommer, Annmarie Stalker, Heather J Steiner, Bernhard Stephan, Mark J Tilstra, David Tomkins, Susan Trapane, Pamela Tsai, Anne Chun-Hui Van Allen, Margot I Vasudevan, Pradeep C Zabel, Bernhard Zunich, Janice Black, Graeme C M Biesecker, Leslie G Producer: 20110128 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. [electronic resource] by Anderson, Beverley H Kasher, Paul R Mayer, Josephine Szynkiewicz, Marcin Jenkinson, Emma M Bhaskar, Sanjeev S Urquhart, Jill E Daly, Sarah B Dickerson, Jonathan E O'Sullivan, James Leibundgut, Elisabeth Oppliger Muter, Joanne Abdel-Salem, Ghada M H Babul-Hirji, Riyana Baxter, Peter Berger, Andrea Bonafé, Luisa Brunstom-Hernandez, Janice E Buckard, Johannes A Chitayat, David Chong, Wui K Cordelli, Duccio M Ferreira, Patrick Fluss, Joel Forrest, Ewan H Franzoni, Emilio Garone, Caterina Hammans, Simon R Houge, Gunnar Hughes, Imelda Jacquemont, Sebastien Jeannet, Pierre-Yves Jefferson, Rosalind J Kumar, Ram Kutschke, Georg Lundberg, Staffan Lourenço, Charles M Mehta, Ramesh Naidu, Sakkubai Nischal, Ken K Nunes, Luís Ounap, Katrin Philippart, Michel Prabhakar, Prab Risen, Sarah R Schiffmann, Raphael Soh, Calvin Stephenson, John B P Stewart, Helen Stone, Jon Tolmie, John L van der Knaap, Marjo S Vieira, Jose P Vilain, Catheline N Wakeling, Emma L Wermenbol, Vanessa Whitney, Andrea Lovell, Simon C Meyer, Stefan Livingston, John H Baerlocher, Gabriela M Black, Graeme C M Rice, Gillian I Crow, Yanick J Producer: 20120420 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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