Anzahl der Einträge: 3.
2020
Runhart, Esmee H.,
Khan, Mubeen,
Cornelis, Stéphanie S.,
Roosing, Susanne,
Del Pozo-Valero, Marta,
Lamey, Tina M.,
Liskova, Petra ,
Roberts, Lisa ,
Stöhr, Heidi,
Klaver, Caroline C. W.,
Hoyng, Carel B.,
Cremers, Frans P. M.,
Dhaenens, Claire-Marie,
AlTabishi, Alaa,
Ayuso, Carmen,
Banfi, Sandro,
Ben-Yosef, Tamar,
van den Born, L. Ingeborgh,
Fakin, Ana,
Farrar, G. Jane,
Ferraz Sallum, Juliana Maria,
Fujinami, Kaoru,
Gorin, Michael B.,
Hlavata, Lucia,
Kamakari, Smaragda,
Kousal, Bohdan,
MacDonald, Ian M.,
McLaren, Terri L.,
Matynia, Anna,
Oldak, Monika,
Podhajcer, Osvaldo L.,
Ramesar, Raj,
De Roach, John N.,
Sharon, Dror,
Simonelli, Francesca,
Testa, Francesco,
Thompson, Jennifer A.,
Tracewska, Anna M.,
Vincent, Andrea L. und
Weber, Bernhard H. F.
(2020)
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
JAMA Ophthalmology 138 (10), S. 1035.
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.
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.
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