Risultati della ricerca - Mathieu Quinodoz

GNB1-Related Rod-Cone Dystrophy: A Case Report di Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran

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Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease di Nathan L. Mata, Stephanie Weng, Michel Michaelides, Peter Charbel Issa, Mathieu Quinodoz, Carlo Rivolta, Hendrik P.N. Scholl

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Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report di Lucas Yan Bin Ng, Mathieu Quinodoz, Tien-En Tan, Rachael W.C. Tang, Carlo Rivolta, Beau J. Fenner

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Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome di Evangelia S. Panagiotou, Thomas Papathomas, Konstantinos Nikopoulos, Stavrenia Koukoula, Mathieu Quinodoz, Atta Ur Rehman, Theodoros Giannopoulos, Carlo Rivolta, Anastasios G. Konstas

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Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors di Oleksandr Zabiegalov, Adeline Berger, Dhryata Kamdar, Kabirou Adamou, Chuanxi Tian, Martial Mbefo, Mathieu Quinodoz, Florian Udry, Carlo Rivolta, Corinne Kostic, Yvan Arsenijevic

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Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa di Peggy Reuter, Jennifer Schroeder, Marc Sturm, Mathieu Quinodoz, Veronika Vaclavik, Miriam Bauwens, Marieke De Bruyne, Bart Leroy, Joseph van Aerschot, Katarina Stingl, Susanne Kohl

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Early-onset macular drusen, a monogenic form of age-related macular degeneration di Lisa M. George, Mathur Ranjana, Mathieu Quinodoz, Rachael W.C. Tang, Weng Khong Lim, Noa G. Gilhar, Saadia Z. Farooqui, Carlo Rivolta, Beau J. Fenner

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De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder di Mathieu Quinodoz, Sonja Rutz, Virginie Peter, Livia Garavelli, A Micheil Innes, Elena F Lehmann, Stephan Kellenberger, Zhong Peng, Angelica Barone, Belinda Campos-Xavier, Sheila Unger, Carlo Rivolta, Raimund Dutzler, Andrea Superti-Furga

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Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB di Lidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, María Inmaculada Martín-Mérida, Mathieu Quinodoz, Mukhtar Ullah, Ester Carreño, María Pilar Martin-Gutierrez, Blanca García-Sandoval, Pablo Minguez, Carlo Rivolta, Marta Corton, Carmen Ayuso

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A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort di Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta

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Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase di Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S. Krebs, Maxime Jan, Rita C. Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart, Eliane Roulet-Perez, Pascal Meylan, René Brouillet, Onya Opota, Leyder Lozano-Calderon, Florence Fellmann, Nicolas Guex, Vincent Zoete, Sandra Asner, Carlo Rivolta, Renaud Du Pasquier, Pierre-Yves Bochud

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment di Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault

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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. di Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards

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