Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von 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.

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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting von 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.

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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair von Walsh, Christopher A, 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

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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks von 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.

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A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 von 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.

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Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome von 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

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis von KRAKOW, Deborah, ROBERTSON, Stephen P, AFTIMOS, Salim, CHONG AE KIM, FIRTH, Helen, STEINER, Carlos E, CORMIER-DAIRE, Valerie, SUPERTI-FURGA, Andrea, BONAFE, Luisa, GRAHAM, John M, GRIX, Arthur, BACINO, Carlos A, KING, Lily M, ALLANSON, Judith, BIALER, Martin G, LACHMAN, Ralph S, RIMOIN, David L, COHN, Daniel H, MORGAN, Timothy, SEBALD, Eiman T, BERTOLOTTO, Cristina, WACHSMANN-HOGIU, Sebastian, ACUNA, Dora, SHAPIRO, Sandor S, TAKAFUTA, Toshiro

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Mutations in PYCR1 cause cutis laxa with progeroid features von Alkazaleh, Fawaz, Haußer, Ingrid, Nanda, Arti, Sillence, David, Reversade, Bruno, Ferrari, Paola, Rajab, Anna, Dallapiccola, Bruno, Kornak, Uwe, Mundlos, Stefan, Nürnberg, Gudrun, Budde, Birgit, Gray, Mary, Nürnberg, Peter, Fischer, Björn, Seemann, Petra, Van Maldergem, Lionel, Escande-Beillard, Nathalie, Savarirayan, Ravi, Li, Yun, Hamamy, Hanan, Schuelke, Markus, Chng, Serene C, Lee, Hane, Tham, Puay-Yoke, Markie, David, Kayserili, Hülya, Merriman, Barry, Guerra, Deanna, Shboul, Mohammad, Nelson, John, Shahwan, Monzer, Masri, Amira, Nelson, Stanley F, Dimopoulou, Aikaterini, Wollnik, Bernd, Al-Gazali, Lihadh, O'Connor, Brian D, Janecke, Andreas R, Zambruno, Giovanna, Robertson, Stephen, Sommer, Annemarie, Kunkel, Désirée, Kegler, Mareen Schmidt-von, Steichen, Elisabeth, Brancati, Francesco, Grix, Arthur

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Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features von 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., Kegler, Mareen Schmidt-von, 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

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis von Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T

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A tribute to Bryan D. Hall: Festschrift 2003 von Carey, John C., Curry, Cynthia J.R., Grix, Arthur W., Golabi, Mahin, Graham Jr, John M., Buehler, Bruce A.

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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity von Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah

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Deficiency of the Cytoskeletal Protein SPECC1 L Leads to Oblique Facial Clefting von 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

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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks von Longoni, Mauro, Lage, Kasper, Russell, Meaghan K, Loscertales, Maria, Abdul-Rahman, Omar A, Baynam, Gareth, Bleyl, Steven B, Brady, Paul, 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

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Nature Genetics von Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Bjorn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hulya, 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, Nurnberg, Gudrun, Nurnberg, Peter, Seemann, Petra, Kunkel, Desiree, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe

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Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome von 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

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Absence of malignant hyperthermia contractures in Becker-Duchenne dystrophy at age 2 von Gronert, Gerald A., Fowler, William, Cardinet III, George H., Grix Jr, Arthur, Ellis, William G., Schwartz, Marshall Z.

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OA1 Mutations and Deletions in X-Linked Ocular Albinism von 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.

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Diagnostic criteria for Walker-Warburg syndrome von Dobyns, William B., Pagon, Roberta A., Armstrong, Dawna, Curry, Cynthia J. R., Greenberg, Frank, Grix, Arthur, Holmes, Lewis B., Laxova, Renata, Michels, Virginia V., Robinow, Meinhard, Zimmerman, Roberta L., Opitz, John M., Reynolds, James F.

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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726-1736) von Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah

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