Hasil Pencarian - Mathieu Quinodoz

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  1. 1
    GNB1-Related Rod-Cone Dystrophy: A Case Report

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

    Diterbitkan 2024-03-01
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  2. 2
    Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome

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

    Diterbitkan 2020-06-01
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  3. 3
    Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis

    Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis oleh Giulia Fregni, Mathieu Quinodoz, Emely Möller, Joanna Vuille, Sabine Galland, Carlo Fusco, Patricia Martin, Igor Letovanec, Paolo Provero, Carlo Rivolta, Nicolo Riggi, Ivan Stamenkovic

    Diterbitkan 2018-03-01
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  4. 4
    Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

    Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature oleh Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon

    Diterbitkan 2020-01-01
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  5. 5
    Herpes simplex encephalitis in adult patients with MASP-2 deficiency.

    Herpes simplex encephalitis in adult patients with MASP-2 deficiency. oleh Stéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, Emilie Collinet, Vincent Zoete, Olivier Michielin, Rafik Menasria, Pascal Meylan, Titus Bihl, Véronique Erard, Florence Fellmann, Carlo Rivolta, Guy Boivin, Pierre-Yves Bochud

    Diterbitkan 2019-12-01
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  6. 6
    Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients

    Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients oleh Stéphanie Bibert, Nicolas Guex, Joao Lourenco, Thomas Brahier, Matthaios Papadimitriou-Olivgeris, Lauro Damonti, Lauro Damonti, Oriol Manuel, Robin Liechti, Robin Liechti, Lou Götz, Lou Götz, Jonathan Tschopp, Mathieu Quinodoz, Mathieu Quinodoz, Mathieu Quinodoz, Peter Vollenweider, Jean-Luc Pagani, Mauro Oddo, Olivier Hügli, Frédéric Lamoth, Frédéric Lamoth, Véronique Erard, Cathy Voide, Mauro Delorenzi, Mauro Delorenzi, Nathalie Rufer, Fabio Candotti, Carlo Rivolta, Carlo Rivolta, Carlo Rivolta, Noémie Boillat-Blanco, Pierre-Yves Bochud, the RegCOVID Study Group, Bochud Pierre-Yves, Desgranges Florian, Filippidis Paraskevas, Guéry Benoit, Haefliger David, Kampouri Eleftheria-Evdokia, Manuel Oriol, Munting Aline, Pagani Jean-Luc, Papadimitriou-Olivgeris Matthaios, Regina Jean, Rochat-Stettler Laurence, Suttels Veronique, Tadini Eliana, Tschopp Jonathan, Van Singer Mathias, Viala Benjamin, Vollenweider Peter

    Diterbitkan 2021-05-01
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  7. 7
    Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

    Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies oleh Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta

    Diterbitkan 2021-09-01
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  8. 8
    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data oleh Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta

    Diterbitkan 2021-01-01
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  9. 9
    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels oleh André Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Sebastian Patzke, Pernille Martens, Signe Krogh Ohlsen, Mathieu Quinodoz, Konstantinos Nikopoulos, Reem Suleiman, Magnus Per Damsø Jeppesen, Catja Weiss, Søren Tvorup Christensen, Carlo Rivolta, Jens S Andersen, Pietro Farinelli, Lotte Bang Pedersen

    Diterbitkan 2021-07-01
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  10. 10
    Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.

    Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. oleh Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, Urikhan Sanzhaeva, Eric S Tucker, Peter Mathers, Virginie G Peter, Mathieu Quinodoz, Liliana P Paris, Luísa Coutinho-Santos, Pedro Camacho, Madeleine G Purcell, Abbie C Winkelmann, James A Foster, Elena N Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy

    Diterbitkan 2019-08-01
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  11. 11
    Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase

    Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase oleh 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

    Diterbitkan 2024-05-01
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  12. 12
    A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

    A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy oleh Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta

    Diterbitkan 2019-06-01
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  13. 13
    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype oleh Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno

    Diterbitkan 2022-10-01
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  14. 14
    TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

    TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa oleh 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

    Diterbitkan 2023-11-01
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  15. 15
    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD oleh Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a 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

    Diterbitkan 2021-06-01
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  16. 16
    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. oleh 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

    Diterbitkan 2022-11-01
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