检索结果 - Janneke J.C. van Lith-Verhoeven

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  1. 1
    Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

    Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus 由 Camiel J.F. Boon, Mary J. van Schooneveld, A. I den Hollander, Janneke J.C. van Lith-Verhoeven, Marijke N. Zonneveld-Vrieling, Thomas Theelen, F.P.M. Cremers, Carel B. Hoyng, B. Jeroen Klevering

    出版 2007
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  2. 2
    Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

    Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy 由 Susanne Roosing, L. Ingeborgh van den Born, Riccardo Sangermano, Sandro Banfi, Robert K. Koenekoop, Marijke N. Zonneveld-Vrieling, Caroline C. W. Klaver, Janneke J.C. van Lith-Verhoeven, Frans P.M. Cremers, Anneke I. den Hollander, Carel B. Hoyng

    出版 2014
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    Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

    Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders 由 Alberta A. H. J. Thiadens, Anneke I. den Hollander, Susanne Roosing, Sander B. Nabuurs, Renate C. Zekveld-Vroon, Rob W.J. Collin, Elfride De Baere, Robert K. Koenekoop, Mary J. van Schooneveld, Tim M. Strom, Janneke J.C. van Lith-Verhoeven, Andrew Lotery, Norka van Moll-Ramirez, Bart P. Leroy, L. Ingeborgh van den Born, Carel B. Hoyng, Frans P.M. Cremers, Caroline C. W. Klaver

    出版 2009
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