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Elisabeth M. Bleeker-Wagemakers

University of Amsterdam

10

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1158

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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

1999 Nature Genetics
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Retinitis pigmentosa: defined from a molecular point of view.

1999 Survey of Ophthalmology
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Molecular basis of choroideremia ( CHM ) : mutations involving the rab escort protein - 1 (REP - 1) gene

1997 Human Mutation
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Autosomal Recessive Retinitis Pigmentosa With Preserved Para-arteriolar Retinal Pigment Epithelium

1994 American Journal of Ophthalmology
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Nance-Horan syndrome: Linkage analysis in a family from the Netherlands

1994 Genomics
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Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

1993 Cytogenetic and Genome Research
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Erratum: Isolation of a candidate gene for Norrie disease by positional cloning

1992 Nature Genetics
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Isolation of a candidate gene for Norrie disease by positional cloning.

1992 Nature Genetics
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Berger, W. et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genet. 1, 199-203

1992
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Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

1992 American Journal of Human Genetics
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Citations (56)