SIX1 Mutations Cause Branchio-Oto-Renal Syndrome by Disruption of EYA1-SIX1-DNA Complexes von Ruf, Rainer G., Xu, Pin-Xian, Silvius, Derek, Otto, Edgar A., Beekmann, Frank, Muerb, Ulla T., Kumar, Shrawan, Neuhaus, Thomas J., Kemper, Markus J., Raymond, Richard M., Brophy, Patrick D., Berkman, Jennifer, Gattas, Michael, Hyland, Valentine, Ruf, Eva-Maria, Schwartz, Charles, Chang, Eugene H., Richard J. H. Smith, Stratakis, Constantine A., Weil, Dominique, Petit, Christine, Hildebrandt, Friedhelm, Weissman, Irving L.

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin von Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, Muerb, Ulla, O'Toole, John F, Helou, Juliana, Attanasio, Massimo, Utsch, Boris, Sayer, John A, Lillo, Concepcion, Jimeno, David, Coucke, Paul, Paepe, Anne De, Reinhardt, Richard, Klages, Sven, Tsuda, Motoyuki, Kawakami, Isao, Kusakabe, Takehiro, Omran, Heymut, Imm, Anita, Tippens, Melissa, Raymond, Pamela A, Hill, Jo, Beales, Phil, He, Shirley, Kispert, Andreas, Margolis, Benjamin, Williams, David S, Swaroop, Anand, Hildebrandt, Friedhelm

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Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis von Hoefele, Julia, Sudbrak, Ralf, Reinhardt, Richard, Lehrack, Silvia, Hennig, Steffen, Imm, Anita, Muerb, Ulla, Utsch, Boris, Attanasio, Massimo, O'Toole, John F., Otto, Edgar, Hildebrandt, Friedhelm

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Mutational analysis of theNPHP4 gene in 250 patients with nephronophthisis von Hoefele, Julia, Sudbrak, Ralf, Reinhardt, Richard, Lehrack, Silvia, Hennig, Steffen, Imm, Anita, Muerb, Ulla, Utsch, Boris, Attanasio, Massimo, O'Toole, John F., Otto, Edgar, Hildebrandt, Friedhelm

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin von Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, Muerb, Ulla, O'Toole, John F, Helou, Juliana, Attanasio, Massimo, Utsch, Boris, Sayer, John A, Lillo, Concepcion, Jimeno, David, Coucke, Paul, Paepe, Anne De, Reinhardt, Richard, Klages, Sven, Tsuda, Motoyuki, Kawakami, Isao, Kusakabe, Takehiro, Omran, Heymut, Imm, Anita, Tippens, Melissa, Raymond, Pamela A, Hill, Jo, Beales, Phil, He, Shirley, Kispert, Andreas, Margolis, Benjamin, Williams, David S, Swaroop, Anand, Hildebrandt, Friedhelm

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