Search Results - Collin, Rob W.J.

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  1. 1
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    Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T → C mutation in Stargardt disease by Sangermano, Riccardo (Author) , Bax, Nathalie M. (Author) , Bauwens, Miriam (Author) , van den Born, L. Ingeborgh (Author) , De Baere, Elfride (Author) , Garanto, Alejandro (Author) , Collin, Rob W. J. (Author) , Goercharn-Ramlal, Angelique S. A. (Author) , den Engelsman-van Dijk, Anke H. A. (Author) , Rohrschneider, Klaus (Author) , Hoyng, Carel B. (Author) , Cremers, Frans P. M. (Author) , Albert, Silvia (Author) ,


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  2. 2
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    Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis by Siemiatkowska, Anna (Author) , van den Born, L. Ingeborgh (Author) , van Genderen, Maria M. (Author) , Bertelsen, Mette (Author) , Zobor, Ditta (Author) , Rohrschneider, Klaus (Author) , van Huet, Ramon A.C. (Author) , Nurohmah, Siska (Author) , Klevering, B. Jeroen (Author) , Kohl, Susanne (Author) , Faradz, Sultana M.H. (Author) , Rosenberg, Thomas (Author) , den Hollander, Anneke I. (Author) , Collin, Rob W.J. (Author) , Cremers, Frans P.M. (Author) ,


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  3. 3
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    IQCB1 mutations in patients with Leber congenital amaurosis by Estrada-Cuzcano, Alejandro (Author) , Koenekoop, Robert K. (Author) , Coppieters, Frauke (Author) , Kohl, Susanne (Author) , Lopez, Irma (Author) , Collin, Rob W. J. (Author) , De Baere, Elfride B. W. (Author) , Roeleveld, Debbie (Author) , Marek, Jonah (Author) , Bernd, Antje (Author) , Rohrschneider, Klaus (Author) , van den Born, L. Ingeborgh (Author) , Meire, Françoise (Author) , Maumenee, Irene H. (Author) , Jacobson, Samuel G. (Author) , Hoyng, Carel B. (Author) , Zrenner, Eberhart (Author) , Cremers, Frans P. M. (Author) , den Hollander, Anneke I. (Author) ,


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  4. 4
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    Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations by Littink, Karin (Author) , Koenekoop, Robert K. (Author) , van den Born, L. Ingeborgh (Author) , Collin, Rob W. J. (Author) , Moruz, Luminita (Author) , Veltman, Joris A. (Author) , Roosing, Susanne (Author) , Zonneveld, Marijke N. (Author) , Omar, Amer (Author) , Darvish, Mahshad (Author) , Lopez, Irma (Author) , Kroes, Hester Y. (Author) , van Genderen, Maria M. (Author) , Hoyng, Carel B. (Author) , Rohrschneider, Klaus (Author) , van Schooneveld, Mary J. (Author) , Cremers, Frans P. M. (Author) , den Hollander, Anneke I. (Author) ,


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  5. 5
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    A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype by Littink, Karin (Author) , Pott, Jan-Willem R. (Author) , Collin, Rob W. J. (Author) , Kroes, Hester Y. (Author) , Verheij, Joke B. G. M. (Author) , Blokland, Ellen A. W. (Author) , de Castro Miró, Marta (Author) , Hoyng, Carel B. (Author) , Klaver, Caroline C. W. (Author) , Koenekoop, Robert K. (Author) , Rohrschneider, Klaus (Author) , Cremers, Frans P. M. (Author) , van den Born, L. Ingeborgh (Author) , den Hollander, Anneke I. (Author) ,


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