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Phenotypic spectrum associated with CASK loss-of-function mutations.(Report)

Moog, Ute ; Kutsche, Kerstin ; Kortum, Fanny ; Chilian, Bettina ; Bierhals, Tatjana ; Apeshiotis, Neophytos ; Balg, Stefanie ; Chassaing, Nicolas ; Coubes, Christine ; Das, Soma ; Engels, Hartmut ; Van Esch, Hilde ; Grasshoff, Ute ; Heise, Marisol ; Isidor, Bertrand ; Jarvis, Joanna ; Koehler, Udo ; Martin, Thomas ; Oehl - Jaschkowitz, Barbara ; Ortibus, Els ; Pilz, Daniela T ; Prabhakar, Prab ; Rappold, Gudrun ; Rau, Isabella ; Rettenberger, Gunther ; Schluter, Gregor ; Scott, Richard H ; Shoukier, Moonef ; Wohlleber, Eva ; Zirn, Birgit ; Dobyns, William B ; Uyanik, Gokhan

Journal of Medical Genetics, Nov, 2011, Vol.48(11), p.741(10) [Peer Reviewed Journal]

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Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.(Report)

Gal, Andreas ; Fehr, Susanne ; Rehbein, Monika ; Schorderet, Daniel F. ; Thompson, Debra A. ; Rau, Isabella ; Matri, Leila El ; Kreienkamp, Hans - Jurgen ; Baklouti, Karim ; Chouchane, Ibtissem ; Yun Li ; Fuchs, Josefine ; Fledelius, Hans C. ; Vilhelmsen, Kaj ; Munier, Francis L. ; Ostergaard, Elsebet ; Rosenberg, Thomas

American Journal of Human Genetics, March 11, 2011, Vol.88(3), p.382(9) [Peer Reviewed Journal]

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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.(Report)

Huebner, Antje K. ; Gandia, Marta ; Frommolt, Peter ; Maak, Anika ; Wicklein, Eva M. ; Thiele, Holger ; Altmuller, Janine ; Wagner, Florian ; Vinuela, Antonio ; Aguirre, Luis A. ; Moreno, Felipe ; Maier, Hannes ; Rau, Isabella ; Giebelmann, Sebastian ; Nurnberg, Gudrun ; Gal, Andreas ; Nurnberg, Peter ; Hubner, Christian A. ; Del Castillo, Ignacio ; Kurth, Ingo

American Journal of Human Genetics, May 13, 2011, Vol.88(5), p.621(7) [Peer Reviewed Journal]

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Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.(Report)

Langmann, Thomas ; Gioia, Silvio Alessandro Di ; Rau, Isabella ; Stohr, Heidi ; Maksimovic, Nela S. ; Corbo, Joseph C. ; Renner, Agnes B. ; Zrenner, Eberhart ; Kumaramanickavel, Govindasamy ; Karlstetter, Marcus ; Arsenijevic, Yvan ; Weber, Bernhard H. F. ; Gal, Andreas ; Rivolta, Carlo

American Journal of Human Genetics, Sept 10, 2010, Vol.87(3), p.376(6) [Peer Reviewed Journal]

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  1. Rau, Isabella
  2. Rau, I
  3. Gal, Andreas
  4. Fehr, Susanne
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