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pro vyhledávání: '"Tim Marx"'
Autor:
Tim Marx
Publikováno v:
Psychotherapie und Empowerment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfdedbfc562e8fe61b2334b41d1b931e
https://doi.org/10.2307/j.ctvddzkzn.16
https://doi.org/10.2307/j.ctvddzkzn.16
Autor:
Daphne Gamer, Samuel G. Jacobson, Martina Broghammer, Roberto Giorda, Roberto Salati, Ulrich Kellner, Carel B. Hoyng, Sinan Tatlipinar, Susanne Kohl, Thomas Rosenberg, Pierre Bitoun, Gerhard Wolff, Herbert Jägle, Bernd Wissinger, E. Cumhur Sener, Eberhart Zrenner, Günter Rudolph, Sabine Tippmann, Frans P.M. Cremers, Marianne Schwartz, Tim Marx, Bernhard Jurklies, Eckart Apfelstedt-Sylla, Claudio Castellan, Christine Verellen-Dumoulin, Simone Mayer, Birgit Lorenz, Sten Andréasson, Lindsay T. Sharpe
Publikováno v:
American Journal of Human Genetics, 69, 4, pp. 722-737
American Journal of Human Genetics, 69, 722-737
American Journal of Human Genetics, 69, 722-737
We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensiv
Autor:
Lindsay T. Sharpe, Tim Marx, Bernd Wissinger, Ian Giddings, Eberhart Zrenner, Susanne Kohl, Eckhart Apfelstedt-Sylla, Herbert Jägle, Samuel G. Jacobson
Publikováno v:
Nature genetics. 19(3)
Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM) or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder characterized by photophobia, reduced visual acuity, nystagmus and the complete