Ngā hua rapu - Janneke J.C. van Lith-Verhoeven
- E whakaatu ana i te 1 - 3 hua o te 3
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1
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus mā 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
I whakaputaina 2007Artigo -
2
Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy mā 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
I whakaputaina 2014Artigo -
3
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders mā 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
I whakaputaina 2009Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Gene
Genetics
Mutation
Proband
Retinal
Electroretinography
Medicine
Ophthalmology
Allele
Biochemistry
Choroideremia
Compound heterozygosity
Dystrophy
Exome
Exome sequencing
Exon
Fluorescein angiography
Frameshift mutation
Fundus (uterus)
Fundus photography
Gene mutation
Macular degeneration
Macular dystrophy
Missense mutation
Pathology
Peripherin
Retinitis pigmentosa
Sanger sequencing
Stargardt disease