Výsledky vyhledávání - Lonneke Haer‐Wigman

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  1. 1
    1 in 38 individuals at risk of a dominant medically actionable disease

    1 in 38 individuals at risk of a dominant medically actionable disease Autor Lonneke Haer‐Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T. Vulto‐van Silfhout, Christian Gilissen, Han G. Brunner, Lisenka E.L.M. Vissers, Helger G. Yntema

    Vydáno 2018
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  2. 2
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity Autor Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens, Zelia Corradi, Elfride De Baere, Susanne Roosing, Lonneke Haer‐Wigman, Claire‐Marie Dhaenens, Anneke T. Vulto‐van Silfhout, Frans P.M. Cremers

    Vydáno 2022
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  3. 3
    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement Autor Graeme Black, Panagiotis I. Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Lišková, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Tauriņa, Marius Šukys, Lonneke Haer‐Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P.M. Cremers, Elfride De Baere, Hélène Dollfus

    Vydáno 2021
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  4. 4
    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) Autor Lonneke Haer‐Wigman, Horatio Hackett Newman, Rina Leibu, Nathalie M. Bax, Hagit Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben‐Yosef

    Vydáno 2015
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  5. 5
    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Autor Zeinab Fadaie, Laura Whelan, Tamar Ben‐Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer‐Wigman, Jordi Corominas, Galuh Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma Duignan, Paul F. Kenna, Frans P.M. Cremers, G. Jane Farrar, Susanne Roosing

    Vydáno 2021
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  6. 6
    Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

    Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants Autor Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer‐Wigman, Helger G. Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David Keegan, G. Jane Farrar, Hannie Kremer, Cris Lanting, Markus Daμμe, Ronald J. E. Pennings

    Vydáno 2022
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  7. 7
    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Autor Laurence Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J. H. Tjon-Fo-Sang, J. Schuil, Caroline C. W. Klaver, Ernie M.H.F. Bongers, Lonneke Haer‐Wigman, Nicoline Schalij, Martijn H. Breuning, Gratia M. Fischer, Eyal Banin, Raj Ramesar, Anand Swaroop, L. Ingeborgh van den Born, Dror Sharon, Frans P.M. Cremers

    Vydáno 2017
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  8. 8
    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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  9. 9
    Diagnostic exome sequencing in 266 Dutch patients with visual impairment

    Diagnostic exome sequencing in 266 Dutch patients with visual impairment Autor Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, L. Ingeborgh van den Born, Caroline C. W. Klaver, Joanne Verheij, Carel B. Hoyng, Martijn H. Breuning, Camiel J. F. Boon, Anneke J.A. Kievit, Virginie J. M. Verhoeven, Jan WR Pott, Suzanne C.E.H. Sallevelt, Johanna M. van Hagen, Astrid S. Plomp, Hester Y. Kroes, Stefan H. Lelieveld, Jayne Y. Hehir‐Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans P.M. Cremers, Lies H. Hoefsloot, Helger G. Yntema

    Vydáno 2017
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  10. 10
    SMIM1 underlies the Vel blood group and influences red blood cell traits

    SMIM1 underlies the Vel blood group and influences red blood cell traits Autor Ana Cvejic, Lonneke Haer‐Wigman, Jonathan Stephens, Myrto Kostadima, Peter A. Smethurst, Mattia Frontini, Emile van den Akker, Paul Bertone, Ewa Bielczyk-Maczyńska, Samantha Farrow, Rudolf S.N. Fehrmann, Alan R. Gray, Masja de Haas, Vincent G. Haver, Gregory E. Jordan, Juha Karjalainen, Hindrik H. D. Kerstens, Graham Kiddle, Heather Lloyd-Jones, Malcolm Needs, Joyce Poole, Aïcha Ait Soussan, Augusto Rendon, Klaus Rieneck, Jennifer G. Sambrook, Hein Schepers, Herman H.W. Silljé, Botond Sipos, Dorine W. Swinkels, Asif U. Tamuri, Niek Verweij, Nicholas A. Watkins, Harm-Jan Westra, Derek L. Stemple, Lude Franke, Nicole Soranzo, Hendrik G. Stunnenberg, Nick Goldman, Pim van der Harst, C. Ellen van der Schoot, Willem H. Ouwehand, Cornelis A. Albers

    Vydáno 2013
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  11. 11
    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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  12. 12
    Development of a Genotype Assay for Age-Related Macular Degeneration

    Development of a Genotype Assay for Age-Related Macular Degeneration Autor Anita de Breuk, İlhan E. Acar, Eveline Kersten, Mascha M.V.A.P. Schijvenaars, Johanna M. Colijn, Lonneke Haer‐Wigman, Bjorn Bakker, Sarah de Jong, Magda A. Meester‐Smoor, Timo Verzijden, Tom Missotten, Jordi Monés, Marc Biarnés, Daniel Pauleikhoff, Hans W. Hense, Rufino Silva, Sandrina Nunes, Joana Barbosa Melo, Sascha Fauser, Carel B. Hoyng, Marius Ueffing, Marieke J. H. Coenen, Caroline C. W. Klaver, Anneke I. den Hollander, Soufiane Ajana, Audrey Cougnard‐Grégoire, Cécile Delcourt, Bénédicte M. J. Merle, Blanca Arango‐González, Sascha Dammeier, Sigrid Diether, Sabina Honisch, Ellen Kilger, Marius Ueffing, Tanja Endermann, Markus Zumbansen, Franz Badura, Berta de la Cerda, Marc Biarnés, Anna Borrell, Lucia L. Ferraro, Míriam Garcia, Jordi Monés, Eduardo Rodríguez, Johanna M. Colijn, M. Arfan Ikram, Caroline C. W. Klaver, Magda A. Meester‐Smoor, Timo Verzijden, Johannes Vingerling, Anneke I. den Hollander, Thomas J. Heesterbeek, Caroline C. W. Klaver, Eveline Kersten, Eiko K. de Jong, İlhan E. Acar, Anita de Breuk, Eszter Emri, Imre Lengyel, Hanno Langen, Everson Nogoceke, Tünde Pető, Philip J. Luthert, Frances M. Pool

    Vydáno 2020
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  13. 13
    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa Autor Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti‐Malin, Manir Ali, Alaa AlTalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Mirella Telles Salgueiro Barboni, Miriam Bauwens, Tamar Ben‐Yosef, David G. Birch, Pooja Biswas, Fiona Blanco‐Kelly, Béatrice Bocquet, Camiel J. F. Boon, Kari Branham, Alexis Ceecee Britten‐Jones, Kinga M. Bujakowska, Elizabeth L. Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Peter Charbel Issa, Naomi Chadderton, Luísa Coutinho Santos, Stephen P. Daiger, Elfride De Baere, Berta de la Cerda, John N. De Roach, Julie De Zaeytijd, Ronny Derks, Claire‐Marie Dhaenens, Ľubica Ďuďáková, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Lidia Fernández‐Caballero, Juliana Maria Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C. Gardner, Christian Gilissen, Kensuke Goto, Roser Gonzàlez‐Duarte, Sam Griffiths‐Jones, Tobias B. Haack, Lonneke Haer‐Wigman, Alison J. Hardcastle, Takaaki Hayashi, Elise Héon, Alexander Hoischen, Josephine Prener Holtan, Carel B. Hoyng, Manuel Benjamin B. Ibanez, Chris F. Inglehearn, Takeshi Iwata, Kaylie Webb-Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Krisztina Knézy, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne Kohl, Taro Kominami, Laura Kuehlewein, Tina M. Lamey, Bart P. Leroy, María Pilar Martín-Gutiérrez, Nelson Martins, L. Mauring, Rina Leibu, Siying Lin, Petra Lišková, Irma López, Víctor Rodríguez, Omar A. Mahroo, Gae͏̈l Manes

    Vydáno 2025
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