检索结果 - Alaa AlTalbishi

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  1. 1
    CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

    CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History 由 Malena Daich Varela, Michalis Georgiou, Yahya AlSwaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami‐Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

    出版 2022
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  2. 2
    Early onset non-syndromic retinal degeneration due to variants in <i>INPP5E:</i> phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

    Early onset non-syndromic retinal degeneration due to variants in <i>INPP5E:</i> phenotypic expansion of the ciliary gene previously associated with Joubert syndrome 由 Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba‐Abbad, Emily Place, Naomi E. Wagner, Anne B. Fulton, Luísa Coutinho Santos, Boris Rosin, Vincent Dunet, Alaa AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben‐Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska

    出版 2020
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  3. 3
    Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies

    Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies 由 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

    出版 2025
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  4. 4
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes 由 Rebekkah J. Hitti‐Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire‐Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben‐Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Lišková, Ľubica Ďuďáková, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeiņa, Gita Tauriņa, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P.M. Cremers

    出版 2024
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  5. 5
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics 由 Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    出版 2020
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  6. 6
    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 由 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

    出版 2025
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