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1دورية أكاديمية
المؤلفون: Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
المصدر: JCI Insight, Vol 8, Iss 21 (2023)
مصطلحات موضوعية: Genetics, Ophthalmology, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2379-3708
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2دورية أكاديمية
المؤلفون: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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4دورية أكاديمية
المؤلفون: Béatrice Bocquet, PhD, Hicham El Alami Trebki, MD, Anne Françoise Roux, PharmD, PhD, Gilles Labesse, PhD, Philippe Brabet, PhD, Carl Arndt, MD, PhD, Xavier Zanlonghi, MD, Sabine Defoort-Dhellemmes, MD, Dalil Hamroun, PhD, Céline Boulicot-Séguin, MD, Léopoldine Lequeux, MD, Marie Christine Picot, MD, Hélèna Huguet, Isabelle Audo, MD, PhD, Claire Marie Dhaenens, PharmD, PhD, Vasiliki Kalatzis, PhD, Isabelle Meunier, MD, PhD
المصدر: Ophthalmology Science, Vol 1, Iss 3, Pp 100052- (2021)
مصطلحات موضوعية: Bothnia dystrophy, CRALBP, gene therapy, Newfoundland rod–cone dystrophy, retinitis punctata albescens, RLBP1, Ophthalmology, RE1-994
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 8, p 4294 (2022)
مصطلحات موضوعية: MFSD8 gene, isolated macular dystrophy, neuronal ceroid lipofuscinosis, deep intronic variant, transcript analysis, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 23, p 12642 (2021)
مصطلحات موضوعية: CRB1, isoforms, early onset retinal dystrophy, Leber congenital amaurosis, macular dystrophy, Müller cells, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, Annie Lacroux, Xavier Zanlonghi, Isabelle Drumare, Elsa Jozefowicz, Béatrice Bocquet, Corinne Baudoin, Sarah Perez-Roustit, Sophie Arsène, Valérie Gissot, François Devin, Carl Arndt, Benjamin Wolff, Martine Mauget-Faÿsse, Maddalena Quaranta, Thibault Mura, Dominique Deplanque, Hassiba Oubraham, Salomon Yves Cohen, Pierre Gastaud, Olivia Zambrowski, Catherine Creuzot-Garcher, Saddek Mohand Saïd, José-Alain Sahel, Eric Souied, Solange Milazzo, Rocio Blanco Garavito, Vasiliki Kalatzis, Bernard Puech, Christian Hamel, Isabelle Audo, Isabelle Meunier
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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8دورية أكاديمية
المؤلفون: Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 12, p 6410 (2021)
مصطلحات موضوعية: TTLL5 gene, novel variants, large deletion, cone-rod dystrophy, early onset severe retinal dystrophy, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet
المصدر: Genes, Vol 12, Iss 2, p 287 (2021)
مصطلحات موضوعية: Leber congenital amaurosis, RPGRIP1, deep intronic variant, oligotherapy, Genetics, QH426-470
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing
المصدر: Genes, Vol 9, Iss 1, p 21 (2018)
مصطلحات موضوعية: whole exome sequencing, inherited retinal diseases, candidate retinal disease genes, Genetics, QH426-470
وصف الملف: electronic resource