Результаты поиска - Maria M. van Genderen

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  1. 1
    Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

    Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature по Maria M. van Genderen

    Опубликовано 2000
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  2. 2
    Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum

    Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum по Cansu de Muijnck, Jacoline B. ten Brink, Arthur A. Bergen, Camiel J. F. Boon, Maria M. van Genderen

    Опубликовано 2023
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  3. 3
    Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

    Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies по Xuan‐Thanh‐An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon

    Опубликовано 2023
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  4. 4
    Quantification of visual function assessment using remote eye tracking in children: validity and applicability

    Quantification of visual function assessment using remote eye tracking in children: validity and applicability по Marlou J. G. Kooiker, Johan J. M. Pel, Hélène J. M. Verbunt, Gerard C. de Wit, Maria M. van Genderen, J. van der Steen

    Опубликовано 2016
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  5. 5
    Assessment of Night Vision Problems in Patients with Congenital Stationary Night Blindness

    Assessment of Night Vision Problems in Patients with Congenital Stationary Night Blindness по Mieke M. C. Bijveld, Maria M. van Genderen, Frank P. Hoeben, Amir A. Katzin, Ruth M. A. van Nispen, Frans C. C. Riemslag, Astrid M. L. Kappers

    Опубликовано 2013
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    Artigo
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  6. 6
    Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

    Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness по Maria M. van Genderen, Mieke M. C. Bijveld, Y. Claassen, Ralph J. Florijn, Jillian N. Pearring, Françoise Meire, Maureen A. McCall, Frans C. C. Riemslag, Ronald G. Gregg, Arthur A. Bergen, Maarten Kamermans

    Опубликовано 2009
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  7. 7
    The retinal pigmentation pathway in human albinism: Not so black and white

    The retinal pigmentation pathway in human albinism: Not so black and white по Reinier Bakker, Ellie L. Wagstaff, Charlotte C. Kruijt, Eszter Emri, Clara D.M. van Karnebeek, Michael B. Hoffmann, Brian P. Brooks, Camiel J.F. Boon, Lluı́s Montoliu, Maria M. van Genderen, Arthur A. Bergen

    Опубликовано 2022
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  8. 8
    A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

    A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia по Susanne Kohl, Frauke Coppieters, Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M. van Genderen, Frans C. C. Riemslag, Robert Łukowski, Anneke I. den Hollander, Frans P.M. Cremers, Elfride De Baere, Carel B. Hoyng, Bernd Wissinger

    Опубликовано 2012
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  9. 9
    A clinical and molecular characterisation of CRB1-associated maculopathy

    A clinical and molecular characterisation of CRB1-associated maculopathy по Kamron Khan, Anthony G. Robson, Omar A. Mahroo, Gavin Arno, Chris F. Inglehearn, Monica Armengol, Naushin Waseem, Graham E. Holder, Keren Carss, Lucy F. Raymond, Andrew R. Webster, Anthony T. Moore, Martin McKibbin, Maria M. van Genderen, James A. Poulter, Michel Michaelides

    Опубликовано 2018
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  10. 10
    Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

    Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies по Mays Talib, Mary J. van Schooneveld, Maria M. van Genderen, Jan Wijnholds, Ralph J. Florijn, Jacoline B. ten Brink, Nicoline E. Schalij‐Delfos, Gislin Dagnelie, Frans P.M. Cremers, Ron Wolterbeek, Marta Fiocco, Alberta A. H. J. Thiadens, Carel B. Hoyng, Caroline C. W. Klaver, Arthur A. Bergen, Camiel J. F. Boon

    Опубликовано 2017
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  11. 11
    Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

    Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations по Karin W. Littink, Robert K. Koenekoop, L. Ingeborgh van den Born, Rob W.J. Collin, Luminita Moruz, Joris A. Veltman, Susanne Roosing, Marijke N. Zonneveld, Amer Omar, Mahshad Darvish-Zargar, Irma López, Hester Y. Kroes, Maria M. van Genderen, Carel B. Hoyng, Klaus Rohrschneider, Mary J. van Schooneveld, Frans P.M. Cremers, Anneke I. den Hollander

    Опубликовано 2010
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  12. 12
    CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials

    CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials по Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline E. Schalij‐Delfos, Caroline C. W. Klaver, Herman E. Talsma, Marta Fiocco, Ralph J. Florijn, Jacoline B. ten Brink, Frans P.M. Cremers, Magda A. Meester‐Smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Arthur A. Bergen, Camiel J.F. Boon

    Опубликовано 2021
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  13. 13
    Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

    Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy по Alberta A. H. J. Thiadens, T. My Lan Phan, Renate C. Zekveld-Vroon, Bart P. Leroy, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C. W. Klaver, Susanne Roosing, Jan-Willem R. Pott, Mary J. van Schooneveld, Norka van Moll-Ramirez, Maria M. van Genderen, Camiel J.F. Boon, Anneke I. den Hollander, Arthur A. Bergen, Elfride De Baere, Frans P.M. Cremers, Andrew Lotery

    Опубликовано 2012
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  14. 14
    Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

    Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism по James A. Poulter, Musallam Al‐Araimi, Iván Conte, Maria M. van Genderen, Eamonn Sheridan, Ian Carr, David Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I. Sergouniotis, Andrew R. Webster, Anthony T. Moore, Bishwanath Pal, Moin Mohamed, Venkataramana Anandula, Vedam L. Ramprasad, Rohit Shetty, Saktivel Murugan, Govindasamy Kumaramanickavel, Alex Tan, David A. Mackey, Alex W. Hewitt, Sandro Banfi, Manir Ali, Chris F. Inglehearn, Carmel Toomes

    Опубликовано 2013
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  15. 15
    The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the<i>RPGR</i>Gene

    The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the<i>RPGR</i>Gene по Mays Talib, Mary J. van Schooneveld, Caroline Van Cauwenbergh, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij‐Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere, Magda A. Meester‐Smoor, Julie De Zaeytijd, Frans P.M. Cremers, L. Ingeborgh van den Born, Alberta A. H. J. Thiadens, Carel B. Hoyng, Caroline C. W. Klaver, Bart P. Leroy, Arthur A. Bergen, Camiel J. F. Boon

    Опубликовано 2018
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  16. 16
    X-Linked Retinoschisis

    X-Linked Retinoschisis по Leo C. Hahn, Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg‐Witte, Ine Strubbe, Magda A. Meester‐Smoor, Alberta A. H. J. Thiadens, Roselie M.H. Diederen, Caroline Van Cauwenbergh, Julie De Zaeytijd, Sophie Walraedt, Elfride De Baere, Caroline C. W. Klaver, Jeannette Ossewaarde–van Norel, L. Ingeborgh van den Born, Carel B. Hoyng, Maria M. van Genderen, Paul A. Sieving, Bart P. Leroy, Arthur A. Bergen, Camiel J. F. Boon

    Опубликовано 2021
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  17. 17
    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia по Helen J. Kuht, Gail Maconachie, Jinu Han, Line Kessel, Maria M. van Genderen, Rebecca J. McLean, Michael Hisaund, Zhanhan Tu, Richard W. Hertle, Karen Grønskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae‐Hwan Choi, Martin D. Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K. Chen, Rachael C. Heath Jeffery, Abdullah Aamir, Ronaldo Yuiti Sano, Jing Jin, Brian P. Brooks, Susanne Kohl, Benoı̂t Arveiler, Lluı́s Montoliu, Elizabeth C. Engle, Frank A. Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irène Gottlob, Mervyn G. Thomas

    Опубликовано 2022
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  18. 18
    Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies

    Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies по Lude Moekotte, Joke de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan‐Thanh‐An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin McKibbin, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Terri L. McLaren, Alaa AlTalbishi, Daan M. Panneman, Erica G. M. Boonen, Sandro Banfi, Béatrice Bocquet, Isabelle Meunier, Elfride De Baere, Robert K. Koenekoop, Monika Ołdak, Carlo Rivolta, Lisa Roberts, Raj Ramesar, R. Strupaite-Sileikiene, Susanne Kohl, G. Jane Farrar, Marion van Vugt, Jessica van Setten, Susanne Roosing, L. Ingeborgh van den Born, Camiel J.F. Boon, Maria M. van Genderen, Jonas J. W. Kuiper

    Опубликовано 2025
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  19. 19
    Variants in CFAP410 cause a range of retinal and skeletal phenotypes

    Variants in CFAP410 cause a range of retinal and skeletal phenotypes по Reinhold E. Schmidt, Amy E. Pohodich, David G. Birch, Kaylie Webb-Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C Parameswarappa, Elise Héon, Hendrik P. N. Scholl, Lucas Janeschitz‐Kriegl, Elias I. Traboulsi, Wadih M. Zein, Brian P. Brooks, Catherine A. Cukras, Robert B. Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, José‐Alain Sahel, Michael B. Gorin, Maria M. van Genderen, Katarína Štingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, U. U. Graf, Samuel Koller, Wolfgang Berger, Christina Gerth‐Kahlert, Molly Marra, Lesley Everett, Paul Yang, Mark E. Pennesi

    Опубликовано 2025
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  20. 20
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement по Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    Опубликовано 2024
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