Anzahl der Einträge: 5.
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
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.
2012
Audo, Isabelle ,
Bujakowska, Kinga ,
Orhan, Elise,
Poloschek, Charlotte M.,
Defoort-Dhellemmes, Sabine,
Drumare, Isabelle,
Kohl, Susanne ,
Luu, Tien D.,
Lecompte, Odile ,
Zrenner, Eberhart,
Lancelot, Marie-Elise,
Antonio, Aline,
Germain, Aurore,
Michiels, Christelle,
Audier, Claire,
Letexier, Mélanie,
Saraiva, Jean-Paul,
Leroy, Bart P.,
Munier, Francis L.,
Mohand-Saïd, Saddek,
Lorenz, Birgit,
Friedburg, Christoph,
Preising, Markus,
Kellner, Ulrich,
Renner, Agnes B.,
Moskova-Doumanova, Veselina,
Berger, Wolfgang,
Wissinger, Bernd,
Hamel, Christian P.,
Schorderet, Daniel F.,
De Baere, Elfride ,
Sharon, Dror ,
Banin, Eyal,
Jacobson, Samuel G. ,
Bonneau, Dominique ,
Zanlonghi, Xavier,
Le Meur, Guylene,
Casteels, Ingele,
Koenekoop, Robert,
Long, Vernon W.,
Meire, Francoise,
Prescott, Katrina,
de Ravel, Thomy,
Simmons, Ian,
Nguyen, Hoan,
Dollfus, Hélène,
Poch, Olivier,
Léveillard, Thierry,
Nguyen-Ba-Charvet, Kim ,
Sahel, José-Alain ,
Bhattacharya, Shomi S. und
Zeitz, Christina
(2012)
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.
The American Journal of Human Genetics 90 (2), S. 321-330.
Volltext nicht vorhanden.
2009
Audo, Isabelle,
Kohl, Susanne ,
Leroy, Bart P.,
Munier, Francis L.,
Guillonneau, Xavier ,
Mohand-Saïd, Saddek,
Bujakowska, Kinga ,
Nandrot, Emeline F.,
Lorenz, Birgit,
Preising, Markus,
Kellner, Ulrich,
Renner, Agnes B.,
Bernd, Antje,
Antonio, Aline,
Moskova-Doumanova, Veselina,
Lancelot, Marie-Elise,
Poloschek, Charlotte M.,
Drumare, Isabelle,
Defoort-Dhellemmes, Sabine,
Wissinger, Bernd,
Léveillard, Thierry,
Hamel, Christian P.,
Schorderet, Daniel F.,
De Baere, Elfride ,
Berger, Wolfgang,
Jacobson, Samuel G. ,
Zrenner, Eberhart,
Sahel, José-Alain ,
Bhattacharya, Shomi S. und
Zeitz, Christina
(2009)
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness.
The American Journal of Human Genetics 85 (5), S. 720-729.
Volltext nicht vorhanden.
2003
De Baere, Elfride,
Beysen, Diane,
Oley, Christine,
Lorenz, Birgit,
Cocquet, Julie,
De Sutter, Paul,
Devriendt, Koen,
Dixon, Michael,
Fellous, Marc,
Fryns, Jean-Pierre,
Garza, Arturo,
Jonsrud, Christoffer,
Koivisto, Pasi A.,
Krause, Amanda,
Leroy, Bart P.,
Meire, Françoise,
Plomp, Astrid,
Van Maldergem, Lionel ,
De Paepe, Anne,
Veitia, Reiner und
Messiaen, Ludwine
(2003)
FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation.
The American Journal of Human Genetics 72 (2), S. 478-487.
Volltext nicht vorhanden.
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