Suchergebnisse - Paul Coucke

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  1. 1
    Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families

    Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families von Paul Coucke

    Veröffentlicht 1999
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  2. 2
    The Genetics of Soft Connective Tissue Disorders

    The Genetics of Soft Connective Tissue Disorders von Olivier Vanakker, Bert Callewaert, Fransiska Malfait, Paul Coucke

    Veröffentlicht 2015
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  3. 3
    Spectrum of mutations in fucosidosis

    Spectrum of mutations in fucosidosis von Patrick J. Willems, Hee‐Chan Seo, Paul Coucke, Rossana Tonlorenzi, John S. O’Brien

    Veröffentlicht 1999
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  4. 4
    The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

    The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients von Fransiska Malfait, Paul Coucke, Sofie Symoens, Bart Loeys, Lieve Nuytinck, Anne De Paepe

    Veröffentlicht 2004
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  5. 5
    Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

    Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips von Jan Hellemans, Paul Coucke, A Giedion, Anne De Paepe, Peter Krämer, Frits A. Beemer, Geert Mortier

    Veröffentlicht 2003
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  6. 6
    CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

    CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments von Annekatrien Boel, Hanna De Saffel, Wouter Steyaert, Bert Callewaert, Anne De Paepe, Paul Coucke, Andy Willaert

    Veröffentlicht 2018
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  7. 7
    COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

    COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome von Sofie Symoens, Fransiska Malfait, Marjolijn Renard, Josette André, Ingrid Haußer, Bart Loeys, Paul Coucke, Anne De Paepe

    Veröffentlicht 2008
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  8. 8
    Defective protein glycosylation in patients with cutis laxa syndrome

    Defective protein glycosylation in patients with cutis laxa syndrome von Éva Morava, Suzan Wopereis, Paul Coucke, Gabrielle Gillessen-Kaesbach, Thomas Voit, Jan Smeitink, Ron A. Wevers, Stephanie Grünewald

    Veröffentlicht 2005
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  9. 9
    BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

    BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment von Annekatrien Boel, Wouter Steyaert, Nina De Rocker, Björn Menten, Bert Callewaert, Anne De Paepe, Paul Coucke, Andy Willaert

    Veröffentlicht 2016
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  10. 10
    Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

    Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients von Laurence Campens, Bert Callewaert, Laura Muiño Mosquera, Marjolijn Renard, Sofie Symoens, Anne De Paepe, Paul Coucke, Julie De Backer

    Veröffentlicht 2015
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  11. 11
    Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

    Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood von Fransiska Malfait, Sofie Symoens, Julie De Backer, Trinh Hermanns‐Lê, Natzi Sakalihasan, Charles M. Lapière, Paul Coucke, Anne De Paepe

    Veröffentlicht 2007
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  12. 12
    Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

    Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa von Qirui Hu, Bart Loeys, Paul Coucke, Anne De Paepe, Robert P. Mecham, Ji-Won Choi, Elaine C. Davis, Zsolt Urbán

    Veröffentlicht 2006
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  13. 13
    Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders

    Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders von Francesca Tonelli, Jan Willem Bek, Roberta Besio, Adelbert De Clercq, Laura Leoni, Phil Salmon, Paul Coucke, Andy Willaert, Antonella Forlino

    Veröffentlicht 2020
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  14. 14
    Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

    Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome von Olivier Vanakker, Ludovic Martin, Leon J. Schurgers, Daniela Quaglino, Laura Costrop, Cees Vermeer, I. Pasquali‐Ronchetti, Paul Coucke, Anne De Paepe

    Veröffentlicht 2010
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  15. 15
    Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

    Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation von Andy Willaert, Fransiska Malfait, Sofie Symoens, Kris Gevaert, Hülya Kayserili, André Mégarbané, Geert Mortier, JG Leroy, Paul Coucke, Anne De Paepe

    Veröffentlicht 2008
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  16. 16
    Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish

    Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish von Claire J. Watson, Adrian T. Monstad-Rios, Rehaan M. Bhimani, Charlotte Gistelinck, Andy Willaert, Paul Coucke, Yi‐Hsiang Hsu, Ronald Y. Kwon

    Veröffentlicht 2020
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  17. 17
    Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

    Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations von Kim De Leeneer, Jan Hellemans, Joachim De Schrijver, Machteld Baetens, Bruce Poppe, Wim Van Criekinge, Anne De Paepe, Paul Coucke, Kathleen Claes

    Veröffentlicht 2011
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  18. 18
    Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

    Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa von Frauke Coppieters, Bart P. Leroy, Diane Beysen, Jan Hellemans, Karolien De Bosscher, Guy Haegeman, Kirsten Robberecht, Wim Wuyts, Paul Coucke, Elfride De Baere

    Veröffentlicht 2007
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  19. 19
    Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic <i>BMP1</i> Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

    Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic <i>BMP1</i> Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta von Delfien Syx, Brecht Guillemyn, Sofie Symoens, Ana Berta Sousa, Ana Medeira, Margo Whiteford, Trinh Hermanns‐Lê, Paul Coucke, Anne De Paepe, Fransiska Malfait

    Veröffentlicht 2015
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  20. 20
    Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

    Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans von Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hülya Kayserili, Paul Coucke

    Veröffentlicht 2013
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