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Affichage: 2 résultats.

- Article de périodique
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
De Baere, Elfride Beysen, Diane Oley, Christine Lorenz, Birgit Cocquet, Julie De Sutter, Pascal[UCL] Devriendt, Koen Dixon, Michael Fellous, Marc Fryns, Jean-Pierre Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Krause, Amanda Leroy, Bart P. Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Veitia, Reiner Messiaen, Ludwine (2003) American Journal of Human Genetics — Vol. 72, no. 2, p. 478-487 (2003)
- Article de périodique
CNGA3 mutations in hereditary cone photoreceptor disorders
Wissinger, Bernd Gamer, Daphne Jägle, Herbert Giorda, Roberto Marx, Tim Mayer, Simone Tippmann, Sabine Broghammer, Martina Jurklies, Bernhard Rosenberg, Thomas Jacobson, Samuel G. Cumhur Sener, E. Tatlipinar, Sinan Hoyng, Carel B. Castellan, Claudio Bitoun, Pierre Andreasson, Sten Rudolph,Günter Kellner, Ulrich Lorenz, Birgit Wollf, Gerhard Dumoulin, Christine[UCL] Schwartz, Marianne Cremers, Franz P.M. Apfelstedt-Sylla, Eckart Zrenner, Eberhart Salati, Roberto Sharper, Lindsay T. Kohl, Susanne (2001) American Journal of Human Genetics — Vol. 69, no. 4, p. 722-737 (2001)