نتائج البحث - Frans P.M. Cremers

تنقيح النتائج
  1. 1
    The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

    The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss حسب Suzanne E. de Bruijn, Zeinab Fadaie, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing

    منشور في 2021-03-01
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  2. 2
    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in <i>ABCA4</i>

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

    منشور في 2021-04-01
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  3. 3
    Correction of the Splicing Defect Caused by a Recurrent Variant in <i>ABCA4</i> (c.769-784C>T) That Underlies Stargardt Disease

    Correction of the Splicing Defect Caused by a Recurrent Variant in <i>ABCA4</i> (c.769-784C>T) That Underlies Stargardt Disease حسب Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin

    منشور في 2022-12-01
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  4. 4
    Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

    Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families حسب Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P.M. Cremers, Mohammadreza Akhlaghi

    منشور في 2019-02-01
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  5. 5
    Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

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

    منشور في 2018-01-01
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  6. 6
    QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease

    QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease حسب Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens

    منشور في 2024-01-01
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  7. 7
    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. حسب Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin

    منشور في 2013-01-01
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  8. 8
    Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

    Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. حسب Qin Liu, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander, L Ingeborgh van den Born, Eric A Pierce

    منشور في 2012-01-01
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  9. 9
    The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

    The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy حسب Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing

    منشور في 2019-06-01
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  10. 10
    Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A

    Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A حسب Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin

    منشور في 2023-12-01
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  11. 11
    Novel and Recurrent Copy Number Variants in <i>ABCA4</i>-Associated Retinopathy

    Novel and Recurrent Copy Number Variants in <i>ABCA4</i>-Associated Retinopathy حسب Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin

    منشور في 2024-05-01
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  12. 12
    Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i>

    Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i> حسب Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef

    منشور في 2024-03-01
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  13. 13
    Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

    Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function حسب Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers

    منشور في 2023-08-01
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  14. 14
    Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i>

    Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i> حسب Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

    منشور في 2022-11-01
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  15. 15
    In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

    In or Out? New Insights on Exon Recognition through Splice-Site Interdependency حسب Mubeen Khan, Stéphanie S. Cornelis, Riccardo Sangermano, Iris J.M. Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W.J. Collin, Frans P.M. Cremers

    منشور في 2020-03-01
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  16. 16
    Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65

    Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65 حسب Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, Silvia Albert, Luke O'Gorman, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto

    منشور في 2022-04-01
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  17. 17
    Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease

    Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease حسب Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

    منشور في 2024-03-01
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  18. 18
    Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

    Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients حسب Avigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, Myriam Berman, Oscar Iguzquiza, Frans P. M. Cremers, Muhammad Imran Khan, Anand Swaroop, Radgonde Amer, Samer Khateb, Tamar Ben-Yosef, Dror Sharon, Eyal Banin

    منشور في 2021-10-01
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  19. 19
    A proteogenomic atlas of the human neural retina

    A proteogenomic atlas of the human neural retina حسب Tabea V. Riepe, Tabea V. Riepe, Tabea V. Riepe, Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Suzanne E. de Bruijn, Erica Boonen, Erica Boonen, Erica Boonen, Tomasz Z. Tomkiewicz, Tomasz Z. Tomkiewicz, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, Emma Delanote, Emma Delanote, Elfride De Baere, Elfride De Baere, Filip van Nieuwerburgh, Sarah De Keulenaer, Barbara Ferrari, Stefano Ferrari, Frauke Coppieters, Frauke Coppieters, Frauke Coppieters, Frans P. M. Cremers, Frans P. M. Cremers, Frans P. M. Cremers, Erwin van Wyk, Susanne Roosing, Susanne Roosing, Susanne Roosing, Erik de Vrieze, Peter A. C. ‘t Hoen

    منشور في 2024-09-01
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  20. 20
    Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

    Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients حسب Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

    منشور في 2024-07-01
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