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Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
Kohl, Susanne, Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, ...
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...