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TÍTULO: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. MLL2 mutation detection in 86 patients with Kabuki syndrome   Full Text
AUTORES: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galan, E; Gener, B; Gilissen, C; Granneman, SM; Hoyer, J; Yntema, HG; Kets, CM; Koolen, DA; Marcelis, CL; Medeira, A; Micale, L; Mohammed, S; de Munnik, SA; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp Versteeg, M; G. Santos; Schoumans, J; Schuurs Hoeijmakers, JHM; Silengo, MC; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, RC; Perez Jurado, L; Dupont, J; de Vries, BBA; Brunner, HG; Veltman, JA; Merla, G; Antonarakis, SE; Hoischen, A; ...Mais
PUBLICAÇÃO: 2013, FONTE: CLINICAL GENETICS, VOLUME: 84, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice  Full Text
AUTORES: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; Andre Megarbane; Nur N Semerci; Ayesha Khan; Saemah Zafar; Raoul Hennekam; Sergio B Sousa; Lina Ramos; Livia Garavelli; Andrea Superti Furga; Anita Wischmeijer; Ian J Jackson; Gabriele Gillessen Kaesbach; Han G Brunner; Dagmar Wieczorek; Hans van Bokhoven; David R FitzPatrick; ...Mais
PUBLICAÇÃO: 2011, FONTE: PLOS GENETICS, VOLUME: 7, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef: 49
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TÍTULO: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome  Full Text
AUTORES: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; Elizabeth M Thompson; Han G Brunner; Bert B A de Vries; Joris A Veltman; ...Mais
PUBLICAÇÃO: 2010, FONTE: NATURE GENETICS, VOLUME: 42, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2  Full Text
AUTORES: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; Memmune Yuksel-Apak; Marc Larregue; Jacqueline Vigneron; Sanda Giurgea; Uwe Kornak; Stefan Mundlos; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos; ...Mais
PUBLICAÇÃO: 2008, FONTE: Nature Genetics, VOLUME: 40, NÚMERO: 1
INDEXADO EM: Scopus CrossRef
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TÍTULO: The valsartan antihypertensive long-term use evaluation (VALUE) trial - Outcomes in patients receiving monotherapy
AUTORES: Stevo Julius; Michael A Weber; Sverre E Kjeldsen; Gordon T McInnes; Alberto Zanchetti; Hans R Brunner; John Laragh; Anthony A Schork; Tsushung A Hua; John Amerena; Ivan Balazovjech; Graham Cassel; Bela Herczeg; Nevres Koylan; Dieter Magometschnigg; Silja Majahalme; Felipe Martinez; Willie Oigman; Ricardo Seabra Gomes; Jun ren Zhu;
PUBLICAÇÃO: 2006, FONTE: HYPERTENSION, VOLUME: 48, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males
AUTORES: Twigg, SRF; Matsumoto, K; Kidd, AMJ; Goriely, A; Taylor, IB; Fisher, RB; Hoogeboom, AJM; Mathijssen, IMJ; Lourenco, MT; Morton, JEV; Sweeney, E; Wilson, LC; Brunner, HG; Mulliken, JB; Wall, SA; Wilkie, AOM;
PUBLICAÇÃO: 2006, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 78, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
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