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

URL الوصول: https://doaj.org/article/95febfe0764a45129e5a016236db8fd5

المؤلفون: Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

المصدر: HGG Advances, Vol 4, Iss 4, Pp 100229- (2023)

مصطلحات موضوعية: genotype-phenotype correlations, clinical testing, molecular genetics, molecular pathophysiology, pathogenesis, USH2A, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000611; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/12422b011d57494b951baf0609ec467e

المؤلفون: Carla Sanjurjo-Soriano, Nejla Erkilic, Krishna Damodar, Hassan Boukhaddaoui, Michalitsa Diakatou, Marcela Garita-Hernandez, Daria Mamaeva, Gregor Dubois, Zhour Jazouli, Carla Jimenez-Medina, Olivier Goureau, Isabelle Meunier, Vasiliki Kalatzis

المصدر: Stem Cell Research & Therapy, Vol 13, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Induced pluripotent stem cells, Retinal organoids, Retinoic acid, Photoreceptors, Rods, Cones, Medicine (General), R5-920, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-6512

URL الوصول: https://doaj.org/article/c832a7f75954473db73eb1042c2e8ef9

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

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1112270/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/8fa606812b804c0a99225be600404957

المؤلفون: Corinne Kostic, Sylvain V. Crippa, Lorette Leon, Christian Hamel, Isabelle Meunier, Aki Kawasaki

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/30079033d3af4040848223507e108fb5

المؤلفون: Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne-Françoise Roux, Vasiliki Kalatzis

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 156-173 (2020)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S232905011930141X; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/e63ae021638f425891097daa81480622

المؤلفون: Carla Sanjurjo-Soriano, Nejla Erkilic, Christel Vache, Gregor Dubois, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

المصدر: Stem Cell Research, Vol 60, Iss , Pp 102738- (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506122000873; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/80ebaca8f2e7443683df77b81e1672fa

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

Relation: http://www.sciencedirect.com/science/article/pii/S2666914521000506; https://doaj.org/toc/2666-9145

URL الوصول: https://doaj.org/article/b3a7eb18fcf84de483d98e7fc8b6450f

المؤلفون: Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaers

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1572-1577 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/04eb0ee344294a4bb5cf3ccc67728744

المؤلفون: Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: Usher syndrome, PCDH15, paracentric inversion, fusion transcripts, long-read sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00623/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7b788bb3d7c2403c815d579012188e3e

المؤلفون: Carla Sanjurjo-Soriano, Nejla Erkilic, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis

المصدر: Stem Cell Research, Vol 33, Iss , Pp 247-250 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506118302769; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/a44b65140a8f40a38d9d40a1ec89cb44

المؤلفون: Carla Sanjurjo-Soriano, Nejla Erkilic, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis

المصدر: Stem Cell Research, Vol 33, Iss , Pp 228-232 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506118302721; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/e4d097725577410db45b55eb1c2b6612

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e8ec2bea4eac47d3b9bdcfc857fd9ebd

المؤلفون: Marion Imbert‐Bouteille, Marion Gauthier‐Villars, Dominique Leroux, Isabelle Meunier, Isabelle Aerts, Livia Lumbroso‐Le Rouic, Sophie Lejeune, Capucine Delnatte, Caroline Abadie, Pascal Pujol, Claude Houdayer, Carole Corsini

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

مصطلحات موضوعية: cancer screening, low penetrance, Osteosarcoma, RB1, Sarcoma, whole‐body MRI, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/6ef236193ee4411a8cecb491cfe6ec97

المؤلفون: Nejla Erkilic, Carla Sanjurjo-Soriano, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis

المصدر: Stem Cell Research, Vol 38, Iss , Pp - (2019)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506119301060; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/227d251b4398442ea0e5916512767e2f

المؤلفون: Nejla Erkilic, Carla Sanjurjo-Soriano, Michalitsa Diakatou, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis

المصدر: Stem Cell Research, Vol 38, Iss , Pp - (2019)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506119301084; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/45f77f87f095475abf3409967468c2cd

المؤلفون: Jeffrey Downey, Erwan Pernet, François Coulombe, Benoit Allard, Isabelle Meunier, Joanna Jaworska, Salman Qureshi, Donald C Vinh, James G Martin, Philippe Joubert, Maziar Divangahi

المصدر: PLoS Pathogens, Vol 13, Iss 4, p e1006326 (2017)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5406035?pdf=render; https://doaj.org/toc/1553-7366; https://doaj.org/toc/1553-7374

URL الوصول: https://doaj.org/article/1a2b52c24946483db0ac9fac820a7833

المؤلفون: Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis

المصدر: Cells, Vol 8, Iss 9, p 1068 (2019)

مصطلحات موضوعية: induced pluripotent stem cells, genetic instability, retinal differentiation, inherited retinal dystrophies, choroideremia, underprenylated cell phenotype, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/8/9/1068; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/58696ef3e8e64d819ea17608c3d767c6

المؤلفون: Isabelle Meunier, Olivier Morisseau, Émilie Garneau, Isabelle Marois, Alexandre Cloutier, Martin V Richter

المصدر: PLoS ONE, Vol 10, Iss 9, p e0138055 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4575127?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bd29aa0ad0b14e919e743d2070a821e6