Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Eyewitness Accounts of the Impact of the 1998 Aitape Tsunami, and of Other Tsunamis in Living Memory, in the Region from Jayapura, Indonesia, to Vanimo, Papua New Guinea
Joku, Gorden N, Davies, Jocelyn M, Davies, Hugh L
Published in Pure and applied geophysics (01.03.2007)
Published in Pure and applied geophysics (01.03.2007)
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How do belowground organisms influence plant-pollinator interactions?
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Book Review
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., van Beersum, Sylvia E.C., Mans, Dorus A., Hikida, Abigail, Eckert, Melissa, Knutzen, Dana, Alswaid, Abdulrahman F., Özyurek, Hamit, Dibooglu, Sel, Otto, Edgar A., Liu, Yangfan, Davis, Erica E., Hutter, Carolyn M., Bammler, Theo K., Farin, Frederico M., Dorschner, Michael, Topçu, Meral, Zackai, Elaine H., Rosenthal, Phillip, Owens, Kelly N., Katsanis, Nicholas, Vincent, John B., Hildebrandt, Friedhelm, Rubel, Edwin W., Raible, David W., Knoers, Nine V.A.M., Chance, Phillip F., Roepman, Ronald, Moens, Cecilia B., Glass, Ian A., Doherty, Dan
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
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