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	81.	Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. [electronic resource] by Nakajima, Masahiro Mizumoto, Shuji Miyake, Noriko Kogawa, Ryo Iida, Aritoshi Ito, Hironori Kitoh, Hiroshi Hirayama, Aya Mitsubuchi, Hiroshi Miyazaki, Osamu Kosaki, Rika Horikawa, Reiko Lai, Angeline Mendoza-Londono, Roberto Dupuis, Lucie Chitayat, David Howard, Andrew Leal, Gabriela F Cavalcanti, Denise Tsurusaki, Yoshinori Saitsu, Hirotomo Watanabe, Shigehiko Lausch, Ekkehart Unger, Sheila Bonafé, Luisa Ohashi, Hirofumi Superti-Furga, Andrea Matsumoto, Naomichi Sugahara, Kazuyuki Nishimura, Gen Ikegawa, Shiro Producer: 20140109 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. [electronic resource] by Garcia Segarra, Nuria Mittaz, Laureane Campos-Xavier, Ana Belinda Bartels, Cynthia F Tuysuz, Beyhan Alanay, Yasemin Cimaz, Rolando Cormier-Daire, Valerie Di Rocco, Maja Duba, Hans-Christoph Elcioglu, Nursel H Forzano, Francesca Hospach, Toni Kilic, Esra Kuemmerle-Deschner, Jasmin B Mortier, Geert Mrusek, Sonja Nampoothiri, Sheela Obersztyn, Ewa Pauli, Richard M Selicorni, Angelo Tenconi, Romano Unger, Sheila Utine, G Eda Wright, Michael Zabel, Bernhard Warman, Matthew L Superti-Furga, Andrea Bonafé, Luisa Producer: 20130212 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 160C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. [electronic resource] by Bowen, Margot E Boyden, Eric D Holm, Ingrid A Campos-Xavier, Belinda Bonafé, Luisa Superti-Furga, Andrea Ikegawa, Shiro Cormier-Daire, Valerie Bovée, Judith V Pansuriya, Twinkal C de Sousa, Sérgio B Savarirayan, Ravi Andreucci, Elena Vikkula, Miikka Garavelli, Livia Pottinger, Caroline Ogino, Toshihiko Sakai, Akinori Regazzoni, Bianca M Wuyts, Wim Sangiorgi, Luca Pedrini, Elena Zhu, Mei Kozakewich, Harry P Kasser, James R Seidman, Jon G Kurek, Kyle C Warman, Matthew L Producer: 20110812 In: PLoS genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. [electronic resource] by Boyden, Eric D Campos-Xavier, A Belinda Kalamajski, Sebastian Cameron, Trevor L Suarez, Philippe Tanackovic, Goranka Tanackovich, Goranka Andria, Generoso Ballhausen, Diana Briggs, Michael D Hartley, Claire Cohn, Daniel H Davidson, H Rosemarie Hall, Christine Ikegawa, Shiro Jouk, Pierre-Simon König, Rainer Megarbané, André Nishimura, Gen Lachman, Ralph S Mortier, Geert Rimoin, David L Rogers, R Curtis Rossi, Massimiliano Sawada, Hirotake Scott, Richard Unger, Sheila Valadares, Eugenia Ribeiro Bateman, John F Warman, Matthew L Superti-Furga, Andrea Bonafé, Luisa Producer: 20120202 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development. [electronic resource] by van Karnebeek, Clara D M Bonafé, Luisa Wen, Xiao-Yan Tarailo-Graovac, Maja Balzano, Sara Royer-Bertrand, Beryl Ashikov, Angel Garavelli, Livia Mammi, Isabella Turolla, Licia Breen, Catherine Donnai, Dian Cormier, Valerie Heron, Delphine Nishimura, Gen Uchikawa, Shinichi Campos-Xavier, Belinda Rossi, Antonio Hennet, Thierry Brand-Arzamendi, Koroboshka Rozmus, Jacob Harshman, Keith Stevenson, Brian J Girardi, Enrico Superti-Furga, Giulio Dewan, Tammie Collingridge, Alissa Halparin, Jessie Ross, Colin J Van Allen, Margot I Rossi, Andrea Engelke, Udo F Kluijtmans, Leo A J van der Heeft, Ed Renkema, Herma de Brouwer, Arjan Huijben, Karin Zijlstra, Fokje Heisse, Thorben Boltje, Thomas Wasserman, Wyeth W Rivolta, Carlo Unger, Sheila Lefeber, Dirk J Wevers, Ron A Superti-Furga, Andrea Publication details: Nature genetics 05 2017 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	NANS-mediated synthesis of sialic acid is required for brain and skeletal development. [electronic resource] by van Karnebeek, Clara D M Bonafé, Luisa Wen, Xiao-Yan Tarailo-Graovac, Maja Balzano, Sara Royer-Bertrand, Beryl Ashikov, Angel Garavelli, Livia Mammi, Isabella Turolla, Licia Breen, Catherine Donnai, Dian Cormier-Daire, Valérie Heron, Delphine Nishimura, Gen Uchikawa, Shinichi Campos-Xavier, Belinda Rossi, Antonio Hennet, Thierry Brand-Arzamendi, Koroboshka Rozmus, Jacob Harshman, Keith Stevenson, Brian J Girardi, Enrico Superti-Furga, Giulio Dewan, Tammie Collingridge, Alissa Halparin, Jessie Ross, Colin J Van Allen, Margot I Rossi, Andrea Engelke, Udo F Kluijtmans, Leo A J van der Heeft, Ed Renkema, Herma de Brouwer, Arjan Huijben, Karin Zijlstra, Fokje Heise, Torben Boltje, Thomas Wasserman, Wyeth W Rivolta, Carlo Unger, Sheila Lefeber, Dirk J Wevers, Ron A Superti-Furga, Andrea Producer: 20170908 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. [electronic resource] by Steenweg, Marjan E Jakobs, Cornelis Errami, Abdellatif van Dooren, Silvy J M Adeva Bartolomé, Maria T Aerssens, Peter Augoustides-Savvapoulou, Persephone Baric, Ivo Baumann, Matthias Bonafé, Luisa Chabrol, Brigitte Clarke, Joe T R Clayton, Peter Coker, Mahmut Cooper, Sarah Falik-Zaccai, Tzipora Gorman, Mark Hahn, Andreas Hasanoglu, Alev King, Mary D de Klerk, Hans B C Korman, Stanley H Lee, Céline Meldgaard Lund, Allan Mejaski-Bosnjak, Vlatka Pascual-Castroviejo, Ignacio Raadhyaksha, Aparna Rootwelt, Terje Roubertie, Agathe Ruiz-Falco, Maria L Scalais, Emmanuel Schimmel, Ulf Seijo-Martinez, Manuel Suri, Mohnish Sykut-Cegielska, Jolanta Trefz, Friedrich K Uziel, Graziella Valayannopoulos, Vassili Vianey-Saban, Christine Vlaho, Stefan Vodopiutz, Julia Wajner, Moacir Walter, John Walter-Derbort, Claudia Yapici, Zuhal Zafeiriou, Dimitrios I Spreeuwenberg, Marieke D Celli, Jacopo den Dunnen, Johan T van der Knaap, Marjo S Salomons, Gajja S Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	88.	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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