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Journal of Experimental Medicine, ISSN 0022-1007, 05/2017, Volume 214, Issue 5, pp. 1547 - 1555
Journal Article
Journal Article
BMC Cancer, ISSN 1471-2407, 08/2012, Volume 12, Issue 1, pp. 379 - 379
Journal Article
by Pertesi, Maroulio and Vallée, Maxime and Wei, Xiaomu and Revuelta, Maria V and Galia, Perrine and Demangel, Delphine and Oliver, Javier and Foll, Matthieu and Chen, Siwei and Perrial, Emeline and Garderet, Laurent and Corre, Jill and Leleu, Xavier and Boyle, Eileen M and Decaux, Olivier and Rodon, Philippe and Kolb, Brigitte and Slama, Borhane and Mineur, Philippe and Voog, Eric and Le Bris, Catherine and Fontan, Jean and Maigre, Michel and Beaumont, Marie and Azais, Isabelle and Sobol, Hagay and Vignon, Marguerite and Royer, Bruno and Perrot, Aurore and Fuzibet, Jean-Gabriel and Dorvaux, Véronique and Anglaret, Bruno and Cony-Makhoul, Pascale and Berthou, Christian and Desquesnes, Florence and Pegourie, Brigitte and Leyvraz, Serge and Mosser, Laurent and Frenkiel, Nicole and Augeul-Meunier, Karine and Leduc, Isabelle and Leyronnas, Cécile and Voillat, Laurent and Casassus, Philippe and Mathiot, Claire and Cheron, Nathalie and Paubelle, Etienne and Moreau, Philippe and Bignon, Yves-Jean and Joly, Bertrand and Bourquard, Pascal and Caillot, Denis and Naman, Hervé and Rigaudeau, Sophie and Marit, Gérald and Macro, Margaret and Lambrecht, Isabelle and Cliquennois, Manuel and Vincent, Laure and Helias, Philippe and Avet-Loiseau, Hervé and Moreno, Victor and Reis, Rui Manuel and Varkonyi, Judit and Kruszewski, Marcin and Vangsted, Annette Juul and Jurczyszyn, Artur and Zaucha, Jan Maciej and Sainz, Juan and Krawczyk-Kulis, Malgorzata and Wątek, Marzena and Pelosini, Matteo and Iskierka-Jażdżewska, Elzbieta and Grząśko, Norbert and Martinez-Lopez, Joaquin and Jerez, Andrés and Campa, Daniele and Buda, Gabriele and Lesueur, Fabienne and Dudziński, Marek and García-Sanz, Ramón and Nagler, Arnon and Rymko, Marcin and Jamroziak, Krzysztof and Butrym, Aleksandra and Canzian, Federico and Obazee, Ofure and Nilsson, Björn and Klein, Robert J and Lipkin, Steven M and McKay, James D and Dumontet, Charles
Leukemia, ISSN 0887-6924, 04/2019, Volume 33, Issue 9, pp. 2324 - 2330
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, pp. 32544 - 32544
Journal Article
Pediatrics, ISSN 0031-4005, 07/2011, Volume 128, Issue 1, pp. e152 - e159
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 5, pp. 1388 - 1393.e8
Journal Article