Výsledky vyhledávání - Nicole Weisschuh

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  1. 1
    Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

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

    Vydáno 2018
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  2. 2
    CDHR1 mutations in retinal dystrophies

    CDHR1 mutations in retinal dystrophies Autor Katarína Štingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh

    Vydáno 2017
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  3. 3
    Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

    Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period Autor Nicole Weisschuh, Carolin D. Obermaier, Florian Battke, Antje Bernd, Laura Kuehlewein, Fadi Nasser, Ditta Zobor, Eberhart Zrenner, Eva Weber, Bernd Wissinger, Saskia Biskup, Katarína Štingl, Susanne Kohl

    Vydáno 2020
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  4. 4
    Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

    Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma Autor Mandy Krumbiegel, Francesca Pasutto, Christian Y. Mardin, Nicole Weisschuh, Daniela Paoli, E. Gramer, Matthias Zenkel, Bernhard H. F. Weber, Friedrich E. Kruse, Ursula Schlo ̈tzer-Schrehardt, André Reis

    Vydáno 2009
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  5. 5
    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies Autor Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte M. Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger, John Neidhardt

    Vydáno 2013
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  6. 6
    Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

    Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome Autor Mandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer‐Schrehardt, Steffen Uebe, Matthias Zenkel, Christian Y. Mardin, Nicole Weisschuh, Daniela Paoli, E. Gramer, Christian Becker, Arif B. Ekici, Bernhard H. F. Weber, Peter Nürnberg, Friedrich E. Kruse, André Reis

    Vydáno 2010
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  7. 7
    Variants in ASB10 are associated with open-angle glaucoma

    Variants in ASB10 are associated with open-angle glaucoma Autor Francesca Pasutto, Kate E. Keller, Nicole Weisschuh, Heinrich Sticht, J. R. Samples, Yuting Yang, Matthias Zenkel, Ursula Schlötzer‐Schrehardt, Christian Y. Mardin, Paolo Frezzotti, Beth Edmunds, P. L. Kramer, E. Gramer, André Reis, Ted S. Acott, Mary K. Wirtz

    Vydáno 2011
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  8. 8
    Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

    Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma Autor Francesca Pasutto, Tomoya Matsumoto, Christian Y. Mardin, Heinrich Sticht, Johann Helmut Brandstätter, Karin Michels-Rautenstrauss, Nicole Weisschuh, E. Gramer, Wishal D. Ramdas, Leonieke M. E. van Koolwijk, Caroline C. W. Klaver, Johannes R. Vingerling, Bernhard H. F. Weber, Friedrich E. Kruse, Bernd Rautenstrauß, Yves‐Alain Barde, André Reis

    Vydáno 2009
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  9. 9
    Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

    Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy Autor Susanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, Dror Sharon, Nicole Weisschuh, Jennifer Staller, Susanne Kohl, Lina Zelinger, Theo Peters, Kornelia Neveling, Tim M. Strom, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C. W. Klaver, Ronald Roepman, Bernd Wissinger, Eyal Banin, Frans P.M. Cremers, Anneke I. den Hollander

    Vydáno 2013
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  10. 10
    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing Autor Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andréasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, C. Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

    Vydáno 2016
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  11. 11
    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy Autor Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, Marie O. Péquignot, Fenna Hensen, Mélanie Quilès, Gaël Manès, Arka Chakraborty, Audrey Sénéćhal, Béatrice Bocquet, Chantal Cazevieille, Agathe Roubertie, Agnès Müller, Majida Charif, David Goudenège, Guy Lenaers, Helmut Wilhelm, Ulrich Kellner, Nicole Weisschuh, Bernd Wissinger, Xavier Zanlonghi, Christian Hamel, Johannes N. Spelbrink, Marı́a Solà, Cécile Delettre

    Vydáno 2019
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  12. 12
    Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia

    Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia Autor M. Dominik Fischer, Stylianos Michalakis, Barbara Wilhelm, Ditta Zobor, Regine Muehlfriedel, Susanne Kohl, Nicole Weisschuh, G. Alex Ochakovski, Reinhild Klein, Christian Schoen, Vithiyanjali Sothilingam, Marina Garcia‐Garrido, Laura Kuehlewein, Nadine Kahle, Annette Werner, Daniyar Dauletbekov, François Paquet‐Durand, Stephen H. Tsang, Peter Martus, Tobias Peters, Mathias W. Seeliger, Karl Ulrich Bartz‐Schmidt, Marius Ueffing, Eberhart Zrenner, Martin Biel, Bernd Wissinger

    Vydáno 2020
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  13. 13
    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases Autor Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G. Stühn, Miriam Bertrand, Amelie J. Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Françoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, T. Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Rieß, Katarína Štingl, Tobias B. Haack

    Vydáno 2023
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  14. 14
    Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

    Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes Autor Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben‐Yosef, Janine Reurink, Hannie Kremer, Laura Whelan, Astrid S. Plomp, Wolfgang Berger, G. Jane Farrar, Árpád Ferenc Kovács, Isabelle Fajardy, Rebekkah J. Hitti‐Malin, Nicole Weisschuh, Marianna E. Weener, Dror Sharon, Ronald J. E. Pennings, Lonneke Haer‐Wigman, Carel B. Hoyng, Marcel Nelen, Lisenka E.L.M. Vissers, L. Ingeborgh van den Born, Christian Gilissen, Frans P.M. Cremers, Alexander Hoischen, Kornelia Neveling, Susanne Roosing

    Vydáno 2022
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  15. 15
    Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

    Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia Autor Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene González-Menéndez, Stanley Chang, Susanne Beck, Marina Garcia Garrido, Vithiyanjali Sothilingam, Mathias W. Seeliger, Franco Stanzial, Francesco Benedicenti, Francesca Inzana, Elise Héon, Ajoy Vincent, Jill Beis, Tim M. Strom, Günther Rudolph, Susanne Roosing, Anneke I. den Hollander, Frans P.M. Cremers, Irma López, Huanan Ren, Anthony T. Moore, Andrew R. Webster, Michel Michaelides, Robert K. Koenekoop, Eberhart Zrenner, Randal J. Kaufman, Stephen H. Tsang, Bernd Wissinger, Jonathan H. Lin

    Vydáno 2015
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  16. 16
    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variant... Autor Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, Toon Rosseel, Jim Bauwens, Kim De Leeneer, Sarah De Jaegere, Thalia Van Laethem, Meindert De Vries, Keren Carss, Gavin Arno, Ana Fakin, Andrew R. Webster, Thomy J.L. de Ravel de l’Argentière, Yves Sznajer, Marnik Vuylsteke, Susanne Kohl, Bernd Wissinger, Timothy J. Cherry, Rob W.J. Collin, Frans P.M. Cremers, Bart P. Leroy, Elfride De Baere

    Vydáno 2019
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  17. 17
    Common genetic variants associated with open-angle glaucoma

    Common genetic variants associated with open-angle glaucoma Autor Wishal D. Ramdas, Leonieke M. E. van Koolwijk, Hans G. Lemij, Francesca Pasutto, Angela J. Cree, Guðmar Þorleifsson, Sarah F. Janssen, ten Brink Jacoline, Najaf Amin, Fernando Rivadeneira, Roger C. W. Wolfs, G. Bragi Walters, Friðbert Jónasson, Nicole Weisschuh, Christian Y. Mardin, Jane Whitney Gibson, Richard H. C. Zegers, Albert Hofman, Paulus T.V.M. de Jong, André G. Uitterlinden, Ben A. Oostra, Unnur Þorsteinsdóttir, E. Gramer, Ulrich C. Welgen-Lüßen, James Kirwan, Arthur A. Bergen, André Reis, Kāri Stefánsson, Andrew Lotery, Johannes R. Vingerling, Nomdo M. Jansonius, Caroline C. W. Klaver, Cornelia M. van Duijn

    Vydáno 2011
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  18. 18
    Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

    Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma Autor Leonieke M. E. van Koolwijk, Wishal D. Ramdas, M. Kamran Ikram, Nomdo M. Jansonius, Francesca Pasutto, Pirro G. Hysi, Stuart MacGregor, Sarah F. Janssen, Alex W. Hewitt, Ananth C. Viswanathan, Jacoline B. ten Brink, S. Mohsen Hosseini, Najaf Amin, Dominiek D. G. Despriet, Jacqueline J M Willemse-Assink, R. Kramer, Fernando Rivadeneira, Maksim Struchalin, Yurii S. Aulchenko, Nicole Weisschuh, Matthias Zenkel, Christian Y. Mardin, E. Gramer, Ulrich Welge‐Lüßen, Grant W. Montgomery, Francis Carbonaro, Terri L. Young, Céline Bellenguez, Peter McGuffin, Paul J. Foster, Fotis Topouzis, Paul Mitchell, Jie Jin Wang, Tien Yin Wong, Monika A. Czudowska, Albert Hofman, André G. Uitterlinden, Roger C. W. Wolfs, Paulus T.V.M. de Jong, Ben A. Oostra, Andrew D. Paterson, David A. Mackey, Arthur A. Bergen, André Reis, Christopher J. Hammond, Johannes R. Vingerling, Hans G. Lemij, Caroline C. W. Klaver, Cornelia M. van Duijn

    Vydáno 2012
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  19. 19
    Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

    Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Autor Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer‐Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben‐Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Ľubica Ďuďáková, Petra Lišková, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Héon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C. W. Klaver, Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J. E. Pennings, Marco Aben, Jaap Oostrik, Galuh Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst–Stams, Alberta A. H. J. Thiadens, Joanne Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H. Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

    Vydáno 2023
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  20. 20
    Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

    Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma Autor Jessica N. Cooke Bailey, Stephanie Loomis, Jae H. Kang, R. Rand Allingham, Puya Gharahkhani, Chiea Chuen Khor, Kathryn P. Burdon, Hugues Aschard, Daniel I. Chasman, Robert P. Igo, Pirro G. Hysi, Craig A. Glastonbury, Allison E. Ashley‐Koch, Murray H. Brilliant, Andrew Brown, Donald L. Budenz, Alfonso Buil, Ching‐Yu Cheng, Hyon K. Choi, William G. Christen, Gary C. Curhan, Immaculata De Vivo, John H. Fingert, Paul J. Foster, Charles S. Fuchs, Douglas Gaasterland, Terry Gaasterland, Alex W. Hewitt, Frank B. Hu, David J. Hunter, Anthony P. Khawaja, Richard K. Lee, Zheng Li, Paul R. Lichter, David A. Mackey, Peter McGuffin, Paul Mitchell, Sayoko E. Moroi, Shamira Perera, Keating W. Pepper, Qibin Qi, Tony Realini, Julia E. Richards, Paul M. Ridker, Eric B. Rimm, Robert Ritch, Marylyn D. Ritchie, Joel S. Schuman, William K. Scott, Kuldev Singh, Arthur J. Sit, Yeunjoo E. Song, Rulla M. Tamimi, Fotis Topouzis, Ananth C. Viswanathan, Shefali S. Verma, Douglas Vollrath, Jie Jin Wang, Nicole Weisschuh, Bernd Wissinger, Gadi Wollstein, Tien Yin Wong, Brian L. Yaspan, Donald J. Zack, Kang Zhang, EPIC-Norfolk Eye Study, Robert N. Weinreb, Margaret A. Pericak‐Vance, Kerrin S. Small, Christopher J. Hammond, Tin Aung, Yutao Liu, Eranga N. Vithana, Stuart MacGregor, Jamie E. Craig, Peter Kraft, Gareth R. Howell, Michael A. Hauser, Louis R. Pasquale, Jonathan L. Haines, Janey L. Wiggs

    Vydáno 2016
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