Anzahl der Einträge: 4.
2020
Khan, Mubeen,
Cornelis, Stéphanie S.,
Pozo-Valero, Marta Del,
Whelan, Laura,
Runhart, Esmee H.,
Mishra, Ketan ,
Bults, Femke,
AlSwaiti, Yahya,
AlTalbishi, Alaa,
De Baere, Elfride,
Banfi, Sandro,
Banin, Eyal,
Bauwens, Miriam,
Ben-Yosef, Tamar,
Boon, Camiel J. F.,
van den Born, L. Ingeborgh,
Defoort, Sabine,
Devos, Aurore,
Dockery, Adrian ,
Dudakova, Lubica ,
Fakin, Ana,
Farrar, G. Jane,
Sallum, Juliana Maria Ferraz,
Fujinami, Kaoru,
Gilissen, Christian ,
Glavač, Damjan,
Gorin, Michael B.,
Greenberg, Jacquie,
Hayashi, Takaaki,
Hettinga, Ymkje M.,
Hoischen, Alexander ,
Hoyng, Carel B.,
Hufendiek, Karsten,
Jägle, Herbert,
Kamakari, Smaragda,
Karali, Marianthi,
Kellner, Ulrich,
Klaver, Caroline C. W.,
Kousal, Bohdan ,
Lamey, Tina M.,
MacDonald, Ian M.,
Matynia, Anna,
McLaren, Terri L.,
Mena, Marcela D. ,
Meunier, Isabelle,
Miller, Rianne,
Newman, Hadas,
Ntozini, Buhle,
Oldak, Monika ,
Pieterse, Marc,
Podhajcer, Osvaldo L.,
Puech, Bernard,
Ramesar, Raj,
Rüther, Klaus,
Salameh, Manar,
Salles, Mariana Vallim,
Sharon, Dror,
Simonelli, Francesca,
Spital, Georg,
Steehouwer, Marloes,
Szaflik, Jacek P.,
Thompson, Jennifer A.,
Thuillier, Caroline,
Tracewska, Anna M. ,
van Zweeden, Martine,
Vincent, Andrea L.,
Zanlonghi, Xavier,
Liskova, Petra ,
Stöhr, Heidi,
Roach, John N. De,
Ayuso, Carmen,
Roberts, Lisa ,
Weber, Bernhard H. F.,
Dhaenens, Claire‐Marie und
Cremers, Frans P. M.
(2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genetics in Medicine 22 (7), S. 1235-1246.
Volltext nicht vorhanden.
2019
Jolly, Jasleen K. ,
Wagner, Siegfried K.,
Martus, Peter,
MacLaren, Robert E.,
Wilhelm, Barbara,
Webster, Andrew R.,
Downes, Susan M.,
Charbel Issa, Peter,
Kellner, Ulrich,
Jägle, Herbert,
Rüther, Klaus,
Bertelsen, Mette,
Bragadóttir, Ragnheiður,
Prener Holtan, Josephine,
van den Born, L. Ingeborgh,
Sodi, Andrea,
Virgili, Gianni,
Gosheva, Mariya,
Pach, Johanna,
Zündorf, Ida,
Zrenner, Eberhart und
Gekeler, Florian
(2019)
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
Ophthalmic Research 63 (3), S. 234-243.
Volltext nicht vorhanden.
2017
Neuhaus, Christine,
Eisenberger, Tobias,
Decker, Christian,
Nagl, Sandra,
Blank, Cornelia,
Pfister, Markus,
Kennerknecht, Ingo,
Müller-Hofstede, Cornelie,
Charbel Issa, Peter,
Heller, Raoul,
Beck, Bodo,
Rüther, Klaus,
Mitter, Diana,
Rohrschneider, Klaus,
Steinhauer, Ute,
Korbmacher, Heike M.,
Huhle, Dagmar,
Elsayed, Solaf M.,
Taha, Hesham M.,
Baig, Shahid M.,
Stöhr, Heidi,
Preising, Markus,
Markus, Susanne,
Moeller, Fabian,
Lorenz, Birgit,
Nagel-Wolfrum, Kerstin,
Khan, Arif O. und
Bolz, Hanno J.
(2017)
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Molecular Genetics & Genomic Medicine 5 (5), S. 531-552.
Volltext nicht vorhanden.
2007
Brinckmann, Anja,
Rüther, Klaus,
Williamson, Kathleen,
Lorenz, Birgit,
Lucke, Barbara,
Nürnberg, Peter,
Trijbels, Frans,
Janssen, Antoon und
Schuelke, Markus
(2007)
De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease.
Journal of Molecular Medicine 85 (2), S. 163-168.
Volltext nicht vorhanden.
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