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	1.	A tribute to Bryan D. Hall: Festschrift 2003. [electronic resource] by Carey, John C Curry, Cynthia J R Grix, Arthur W Golabi, Mahin Graham, John M Buehler, Bruce A Producer: 20040618 In: American journal of medical genetics. Part A vol. 123A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A locus for bilateral perisylvian polymicrogyria maps to Xq28. [electronic resource] by Villard, Laurent Nguyen, Karine Cardoso, Carlos Martin, Christa Lese Weiss, Ann M Sifry-Platt, Mara Grix, Arthur W Graham, John M Winter, Robin M Leventer, Richard J Dobyns, William B Producer: 20020418 In: American journal of human genetics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. [electronic resource] by Shen, Jun Gilmore, Edward C Marshall, Christine A Haddadin, Mary Reynolds, John J Eyaid, Wafaa Bodell, Adria Barry, Brenda Gleason, Danielle Allen, Kathryn Ganesh, Vijay S Chang, Bernard S Grix, Arthur Hill, R Sean Topcu, Meral Caldecott, Keith W Barkovich, A James Walsh, Christopher A Producer: 20100415 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. [electronic resource] by Saadi, Irfan Alkuraya, Fowzan S Gisselbrecht, Stephen S Goessling, Wolfram Cavallesco, Resy Turbe-Doan, Annick Petrin, Aline L Harris, James Siddiqui, Ursela Grix, Arthur W Hove, Hanne D Leboulch, Philippe Glover, Thomas W Morton, Cynthia C Richieri-Costa, Antonio Murray, Jeffrey C Erickson, Robert P Maas, Richard L Producer: 20110919 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)
	5.	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. [electronic resource] by Krakow, Deborah Robertson, Stephen P King, Lily M Morgan, Timothy Sebald, Eiman T Bertolotto, Cristina Wachsmann-Hogiu, Sebastian Acuna, Dora Shapiro, Sandor S Takafuta, Toshiro Aftimos, Salim Kim, Chong Ae Firth, Helen Steiner, Carlos E Cormier-Daire, Valerie Superti-Furga, Andrea Bonafe, Luisa Graham, John M Grix, Arthur Bacino, Carlos A Allanson, Judith Bialer, Martin G Lachman, Ralph S Rimoin, David L Cohn, Daniel H Producer: 20040816 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. [electronic resource] by Lines, Matthew A Huang, Lijia Schwartzentruber, Jeremy Douglas, Stuart L Lynch, Danielle C Beaulieu, Chandree Guion-Almeida, Maria Leine Zechi-Ceide, Roseli Maria Gener, Blanca Gillessen-Kaesbach, Gabriele Nava, Caroline Baujat, Geneviève Horn, Denise Kini, Usha Caliebe, Almuth Alanay, Yasemin Utine, Gulen Eda Lev, Dorit Kohlhase, Jürgen Grix, Arthur W Lohmann, Dietmar R Hehr, Ute Böhm, Detlef Majewski, Jacek Bulman, Dennis E Wieczorek, Dagmar Boycott, Kym M Producer: 20120619 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. [electronic resource] by Longoni, Mauro Lage, Kasper Russell, Meaghan K Loscertales, Maria Abdul-Rahman, Omar A Baynam, Gareth Bleyl, Steven B Brady, Paul D Breckpot, Jeroen Chen, Chih P Devriendt, Koenraad Gillessen-Kaesbach, Gabriele Grix, Arthur W Rope, Alan F Shimokawa, Osamu Strauss, Bernarda Wieczorek, Dagmar Zackai, Elaine H Coletti, Caroline M Maalouf, Faouzi I Noonan, Kristin M Park, Ji H Tracy, Adam A Lee, Charles Donahoe, Patricia K Pober, Barbara R Producer: 20130807 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. [electronic resource] by Robertson, Stephen P Jenkins, Zandra A Morgan, Timothy Adès, Lesley Aftimos, Salim Boute, Odile Fiskerstrand, Torunn Garcia-Miñaur, Sixto Grix, Arthur Green, Andrew Der Kaloustian, Vazken Lewkonia, Ray McInnes, Brenda van Haelst, Mieke M Mancini, Grazia Macini, Grazia Illés, Tamás Mortier, Geert Newbury-Ecob, Ruth Nicholson, Linda Scott, Charles I Ochman, Karolina Brozek, Izabela Shears, Deborah J Superti-Furga, Andrea Suri, Mohnish Whiteford, Margo Wilkie, Andrew O M Krakow, Deborah Producer: 20060928 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. [electronic resource] by Beysen, Diane De Jaegere, Sarah Amor, David Bouchard, Philippe Christin-Maitre, Sophie Fellous, Marc Touraine, Philippe Grix, Arthur W Hennekam, Raoul Meire, Françoise Oyen, Nina Wilson, Louise C Barel, Dalit Clayton-Smith, Jill de Ravel, Thomy Decock, Christian Delbeke, Patricia Ensenauer, Regina Ebinger, Friedrich Gillessen-Kaesbach, Gabriele Hendriks, Yvonne Kimonis, Virginia Laframboise, Rachel Laissue, Paul Leppig, Kathleen Leroy, Bart P Miller, David T Mowat, David Neumann, Luitgard Plomp, Astrid Van Regemorter, Nicole Wieczorek, Dagmar Veitia, Reiner A De Paepe, Anne De Baere, Elfride Producer: 20081211 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Mutations in PYCR1 cause cutis laxa with progeroid features. [electronic resource] by Reversade, Bruno Escande-Beillard, Nathalie Dimopoulou, Aikaterini Fischer, Björn Chng, Serene C Li, Yun Shboul, Mohammad Tham, Puay-Yoke Kayserili, Hülya Al-Gazali, Lihadh Shahwan, Monzer Brancati, Francesco Lee, Hane O'Connor, Brian D Schmidt-von Kegler, Mareen Merriman, Barry Nelson, Stanley F Masri, Amira Alkazaleh, Fawaz Guerra, Deanna Ferrari, Paola Nanda, Arti Rajab, Anna Markie, David Gray, Mary Nelson, John Grix, Arthur Sommer, Annemarie Savarirayan, Ravi Janecke, Andreas R Steichen, Elisabeth Sillence, David Hausser, Ingrid Budde, Birgit Nürnberg, Gudrun Nürnberg, Peter Seemann, Petra Kunkel, Désirée Zambruno, Giovanna Dallapiccola, Bruno Schuelke, Markus Robertson, Stephen Hamamy, Hanan Wollnik, Bernd Van Maldergem, Lionel Mundlos, Stefan Kornak, Uwe Producer: 20090928 In: Nature genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)