Хайлтын үр дүнгүүд - Frans P.M. Cremers

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  1. 1
    Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

    Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies -н Anneke I. den Hollander, Aaron Black, Jean Bennett, Frans P.M. Cremers

    Хэвлэсэн 2010
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  2. 2
    Composition and function of the Crumbs protein complex in the mammalian retina

    Composition and function of the Crumbs protein complex in the mammalian retina -н Ilse Gosens, Anneke I. den Hollander, Frans P.M. Cremers, Ronald Roepman

    Хэвлэсэн 2008
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  3. 3
    Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

    Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations -н Frans P.M. Cremers, Winston Lee, Rob W.J. Collin, Rando Allikmets

    Хэвлэсэн 2020
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  4. 4
    Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

    Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models -н Frans P.M. Cremers, Camiel J. F. Boon, Kinga M. Bujakowska, Christina Zeitz

    Хэвлэсэн 2018
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    Editorial
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  5. 5
    Benchmarking deep learning splice prediction tools using functional splice assays

    Benchmarking deep learning splice prediction tools using functional splice assays -н Tabea Riepe, Mubeen Khan, Susanne Roosing, Frans P.M. Cremers, Peter A.C. ‘t Hoen

    Хэвлэсэн 2021
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    Artigo
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  6. 6
    REP-2, a Rab escort protein encoded by the choroideremia-like gene.

    REP-2, a Rab escort protein encoded by the choroideremia-like gene. -н Frans P.M. Cremers, Scott A. Armstrong, Miguel C. Seabra, Matthew S. Brown, Joseph L. Goldstein

    Хэвлэсэн 1994
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    Artigo
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  7. 7
    Non-syndromic retinal ciliopathies: translating gene discovery into therapy

    Non-syndromic retinal ciliopathies: translating gene discovery into therapy -н Alejandro Estrada‐Cuzcano, Ronald Roepman, Frans P.M. Cremers, Anneke I. den Hollander, Dorus A. Mans

    Хэвлэсэн 2012
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  8. 8
    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4 -н Tomasz Z. Tomkiewicz, Nuria Suárez-Herrera, Frans P.M. Cremers, Rob W.J. Collin, Alejandro Garanto

    Хэвлэсэн 2021
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    Artigo
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  9. 9
    Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

    Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis -н Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P.M. Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor

    Хэвлэсэн 2018
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    Artigo
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  10. 10
    Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

    Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis -н Alejandro Garanto, Sylvia E. C. van Beersum, Theo Peters, Ronald Roepman, Frans P.M. Cremers, Rob W.J. Collin

    Хэвлэсэн 2013
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    Artigo
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  11. 11
    A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

    A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene -н Y J de Kok, Gerard Merkx, Silvère M. van der Maarel, I Huber, S Malcolm, H.-H. Ropers, Frans P.M. Cremers

    Хэвлэсэн 1995
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    Artigo
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  12. 12
    Identification of splice defects due to noncanonical splice site or deep‐intronic variants in <i>ABCA4</i>

    Identification of splice defects due to noncanonical splice site or deep‐intronic variants in <i>ABCA4</i> -н Zeinab Fadaie, Mubeen Khan, Marta Del Pozo‐Valero, Stéphanie S. Cornelis, Carmen Ayuso, Frans P.M. Cremers, Susanne Roosing, The ABCA study group

    Хэвлэсэн 2019
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    Artigo
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  13. 13
    Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

    Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy -н Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider, A. Blankenagel, Han G. Brunner, August F. Deutman, Carel B. Hoyng, Frans P.M. Cremers

    Хэвлэсэн 2000
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    Artigo
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  14. 14
    Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

    Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290 -н Rob W.J. Collin, Anneke I. den Hollander, Saskia D. van der Velde-Visser, Jeannette Bennicelli, Jean Bennett, Frans P.M. Cremers

    Хэвлэсэн 2012
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    Artigo
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  15. 15
    Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?

    Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease? -н Y.M. van Kasteren, Rubin D.L. Hundscheid, Arie P.T. Smits, Frans P.M. Cremers, P. van Zonneveld, D.D.M. Braat

    Хэвлэсэн 1999
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    Artigo
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  16. 16
    Towards understanding CRUMBS function in retinal dystrophies

    Towards understanding CRUMBS function in retinal dystrophies -н Mélisande Richard, Ronald Roepman, Wendy M. Aartsen, Agnes G.S.H. van Rossum, Anneke I. den Hollander, Elisabeth Knust, Jan Wijnholds, Frans P.M. Cremers

    Хэвлэсэн 2006
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  17. 17
    Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

    Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations -н Ronald Roepman, Stef J.F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P.M. Cremers

    Хэвлэсэн 2005
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    Artigo
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  18. 18
    Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa

    Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa -н B. Jeroen Klevering, Suzanne Yzer, Klaus Rohrschneider, Marijke N. Zonneveld, Rando Allikmets, L. Ingeborgh van den Born, Alessandra Maugeri, Carel B. Hoyng, Frans P.M. Cremers

    Хэвлэсэн 2004
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    Artigo
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  19. 19
    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark -н Galuh Astuti, Mette Bertelsen, Markus N. Preising, Muhammad Ajmal, Birgit Lorenz, Sultana MH Faradz, Raheel Qamar, Rob W.J. Collin, Thomas Rosenberg, Frans P.M. Cremers

    Хэвлэсэн 2015
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    Artigo
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  20. 20
    Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

    Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome -н Karin W. Littink, Patricia Stappers, Frans C. C. Riemslag, Herman E. Talsma, Maria van Genderen, Frans P.M. Cremers, Rob W.J. Collin, L. van den Born

    Хэвлэсэн 2018
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    Artigo
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