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An Atypical Mild Phenotype of Autosomal Recessive RPE65 -Associated Retinitis Pigmentosa.

Autor: Merle, David Adrian, Kohl, Susanne, Reith, Milda, Schäferhoff, Karin, Zuleger, Theresia, Stühn, Lara, Stingl, Krunoslav, Kempf, Melanie, Kühlewein, Laura, Grasshoff, Ute, Stingl, Katarina

Publikováno v: Klinische Monatsblätter für Augenheilkunde; Mar2024, Vol. 241 Issue 3, p266-271, 6p

Molecular and cell biological effects of 3,5,3′-triiodothyronine on progenitor cells of the enteric nervous system in vitro

Autor: Mohr, Roland, Neckel, Peter, Zhang, Ying, Stachon, Susanne, Nothelfer, Katharina, Schaeferhoff, Karin, Obermayr, Florian, Bonin, Michael, Just, Lothar

Publikováno v: In Stem Cell Research November 2013 11(3):1191-1205

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Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

Autor: Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P.M., Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B., Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne

Publikováno v: International Journal of Molecular Sciences, 22, 5
International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2374, p 2374 (2021)
International Journal of Molecular Sciences, 22

Contains fulltext : 231653.pdf (Publisher’s version ) (Open Access) In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ae92e5bb1a3e92606d9cb179868b7b7c
https://hdl.handle.net/2066/231653