Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
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.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
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.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
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.
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
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A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
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.
Published in American journal of human genetics (01.04.2002)
Published in American journal of human genetics (01.04.2002)
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Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
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
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
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A tribute to Bryan D. Hall: Festschrift 2003
Carey, John C., Curry, Cynthia J.R., Grix, Arthur W., Golabi, Mahin, Graham Jr, John M., Buehler, Bruce A.
Published in American journal of medical genetics. Part A (15.11.2003)
Published in American journal of medical genetics. Part A (15.11.2003)
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Journal Article
Deficiency of the Cytoskeletal Protein SPECC1 L Leads to Oblique Facial Clefting
SAADI, Irfan, ALKURAYA, Fowzan S, HOVE, Hanne D, LEBOULCH, Philippe, GLOVER, Thomas W, MORTON, Cynthia C, RICHIERI-COSTA, Antonio, MURRAY, Jeffrey C, ERICKSON, Robert P, MAAS, Richard L, GISSELBRECHT, Stephen S, GOESSLING, Wolfram, CAVALLESCO, Resy, TURBE-DOAN, Annick, PETRIN, Aline L, HARRIS, James, SIDDIQUI, Ursela, GRIX, Arthur W
Published in American journal of human genetics (2011)
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Published in American journal of human genetics (2011)
Journal Article
OA1 Mutations and Deletions in X-Linked Ocular Albinism
Schnur, Rhonda E., Gao, Mei, Wick, Penelope A., Keller, Margaret, Benke, Paul J., Edwards, Matthew J., Grix, Arthur W., Hockey, Athel, Jung, Jack H., Kidd, Kenneth K., Kistenmacher, Mildred, Levin, Alex V., Lewis, Richard A., Musarella, Maria A., Nowakowski, Rod W., Orlow, Seth J., Pagon, Roberta S., Pillers, De-Ann M., Punnett, Hope H., Quinn, Graham E., Tezcan, Kamer, Wagstaff, Joseph, Weleber, Richard G.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Focal dermal hypoplasia: Four cases with widely varying presentations
Kilmer, Suzanne Linsmeier, Grix, Arthur W., Isseroff, R. Rivkah
Published in Journal of the American Academy of Dermatology (01.05.1993)
Published in Journal of the American Academy of Dermatology (01.05.1993)
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Phenotypic variability in X-linked ocular albinism : relationship to linkage genotypes
SCHNUR, R. E, WICK, P. A, BAILEY, C, REBBECK, T, WELEBER, R. G, WAGSTAFF, J, GRIX, A. W, PAGON, R. A, HOCKEY, A, EDWARDS, M. J
Published in American journal of human genetics (01.09.1994)
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Published in American journal of human genetics (01.09.1994)
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