Einträge von Bauwens, Miriam auf dem Publikationsserver

Nuzhat, Nafisa , Van Schil, Kristof , Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R. , Winter, Jennifer, Truong, Hanh M. , Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise , Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M., Van Lint, Michel, Rossmann, Heidi , Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N. , De Baere, Elfride und Bolz, Hanno J. (2023) CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. Journal of Clinical Investigation 133 (8). Volltext nicht vorhanden.

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.

Sangermano, Riccardo , Garanto, Alejandro , Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix , Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia , Collin, Rob W. J. und Cremers, Frans P. M. (2019) Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genetics in Medicine 21 (8), S. 1751-1760. Volltext nicht vorhanden.