Resultados da busca - Quinodoz, Mathieu

Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters por Quinodoz, Mathieu, Gobet, Cédric, Naef, Felix, Gustafson, Kyle B

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Likelihood-Free Inference in High-Dimensional Models por Kousathanas, Athanasios, Leuenberger, Christoph, Helfer, Jonas, Quinodoz, Mathieu, Foll, Matthieu, Wegmann, Daniel

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DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders por Quinodoz, Mathieu, Royer-Bertrand, Beryl, Cisarova, Katarina, Di Gioia, Silvio Alessandro, Superti-Furga, Andrea, Rivolta, Carlo

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Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies por Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo

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Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 por Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo

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

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Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants por Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G., Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea

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Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening por Nardou, Katya, Nicolas, Michael, Kuttler, Fabien, Cisarova, Katarina, Celik, Elifnaz, Quinodoz, Mathieu, Riggi, Nicolo, Michielin, Olivier, Rivolta, Carlo, Turcatti, Gerardo, Moulin, Alexandre Pierre

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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity por Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo

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

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

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

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Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder por Han, Ji Hoon, Ryan, Gavin, Guy, Alyson, Liu, Lu, Quinodoz, Mathieu, Helbling, Ingrid, Lai-Cheong, Joey E, Barwell, Julian, Folcher, Marc, McGrath, John A, Moss, Celia, Rivolta, Carlo

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

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

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

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

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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene por Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda

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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes por Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne

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Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients por Bibert, Stéphanie, Guex, Nicolas, Lourenco, Joao, Brahier, Thomas, Papadimitriou-Olivgeris, Matthaios, Damonti, Lauro, Manuel, Oriol, Liechti, Robin, Götz, Lou, Tschopp, Jonathan, Quinodoz, Mathieu, Vollenweider, Peter, Pagani, Jean-Luc, Oddo, Mauro, Hügli, Olivier, Lamoth, Frédéric, Erard, Véronique, Voide, Cathy, Delorenzi, Mauro, Rufer, Nathalie, Candotti, Fabio, Rivolta, Carlo, Boillat-Blanco, Noémie, Bochud, Pierre-Yves

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