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1 |
Material Type: Artigo
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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathyBöhm, Johann ; Bulla, Monica ; Urquhart, Jill E. ; Malfatti, Edoardo ; Williams, Simon G. ; O'Sullivan, James ; Szlauer, Anastazja ; Koch, Catherine ; Baranello, Giovanni ; Mora, Marina ; Ripolone, Michela ; Violano, Raffaella ; Moggio, Maurizio ; Kingston, Helen ; Dawson, Timothy ; DeGoede, Christian G. ; Nixon, John ; Boland, Anne ; Deleuze, Jean‐François ; Romero, Norma ; Newman, William G. ; Demaurex, Nicolas ; Laporte, JocelynHuman mutation, 2017-04, Vol.38 (4), p.426-438 [Periódico revisado por pares]United States: Wiley Periodicals IncTexto completo disponível |
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2 |
Material Type: Artigo
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French familiesJonson, P. H. ; Palmio, J. ; Johari, M. ; Penttilä, S. ; Evilä, A. ; Nelson, I. ; Bonne, G. ; Wiart, N. ; Meyer, V. ; Boland, A. ; Deleuze, J.‐F. ; Masson, C. ; Stojkovic, T. ; Chapon, F. ; Romero, N. B. ; Solé, G. ; Ferrer, X. ; Ferreiro, A. ; Hackman, P. ; Richard, I. ; Udd, B.European journal of neurology, 2018-05, Vol.25 (5), p.790-794 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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3 |
Material Type: Artigo
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The importance of naturally attenuated SARS‐CoV‐2in the fight against COVID‐19Armengaud, Jean ; Delaunay‐Moisan, Agnès ; Thuret, Jean‐Yves ; Anken, Eelco ; Acosta‐Alvear, Diego ; Aragón, Tomás ; Arias, Carolina ; Blondel, Marc ; Braakman, Ineke ; Collet, Jean‐François ; Courcol, René ; Danchin, Antoine ; Deleuze, Jean‐François ; Lavigne, Jean‐Philippe ; Lucas, Sophie ; Michiels, Thomas ; Moore, Edward R. B. ; Nixon‐Abell, Jonathon ; Rossello‐Mora, Ramon ; Shi, Zheng‐Li ; Siccardi, Antonio G. ; Sitia, Roberto ; Tillett, Daniel ; Timmis, Kenneth N. ; Toledano, Michel B. ; Sluijs, Peter ; Vicenzi, ElisaEnvironmental microbiology, 2020-06, Vol.22 (6), p.1997-2000 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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4 |
Material Type: Artigo
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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsCoursimault, Juliette ; Cassinari, Kévin ; Lecoquierre, François ; Quenez, Olivier ; Coutant, Sophie ; Derambure, Céline ; Vezain, Myriam ; Drouot, Nathalie ; Vera, Gabriella ; Schaefer, Elise ; Philippe, Anaïs ; Doray, Bérénice ; Lambert, Laëtitia ; Ghoumid, Jamal ; Smol, Thomas ; Rama, Mélanie ; Legendre, Marine ; Lacombe, Didier ; Fergelot, Patricia ; Olaso, Robert ; Boland, Anne ; Deleuze, Jean‐François ; Goldenberg, Alice ; Saugier‐Veber, Pascale ; Nicolas, GaëlHuman mutation, 2022-12, Vol.43 (12), p.1882-1897 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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5 |
Material Type: Artigo
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Circadian genes and risk of prostate cancer: Findings from the EPICAP studyWendeu‐Foyet, Méyomo G. ; Koudou, Yves ; Cénée, Sylvie ; Trétarre, Brigitte ; Rébillard, Xavier ; Cancel‐Tassin, Géraldine ; Cussenot, Olivier ; Boland, Anne ; Bacq, Delphine ; Deleuze, Jean‐François ; Lamy, Pierre‐Jean ; Mulot, Claire ; Laurent‐Puig, Pierre ; Truong, Thérèse ; Menegaux, FlorenceInternational journal of cancer, 2019-10, Vol.145 (7), p.1745-1753 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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6 |
Material Type: Artigo
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Circadian genes polymorphisms, night work and prostate cancer risk: Findings from the EPICAP studyWendeu‐Foyet, Méyomo G. ; Cénée, Sylvie ; Koudou, Yves ; Trétarre, Brigitte ; Rébillard, Xavier ; Cancel‐Tassin, Géraldine ; Cussenot, Olivier ; Boland, Anne ; Olaso, Robert ; Deleuze, Jean‐François ; Blanché, Hélène ; Lamy, Pierre‐Jean ; Mulot, Claire ; Laurent‐Puig, Pierre ; Truong, Thérèse ; Menegaux, FlorenceInternational journal of cancer, 2020-12, Vol.147 (11), p.3119-3129 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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7 |
Material Type: Artigo
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Cysteamine Supplementation of In vitro Maturation Media: A ReviewDeleuze, S ; Goudet, GReproduction in domestic animals, 2010-12, Vol.45 (6), p.e476-e482 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Heterogeneous firing rate response of mouse layer V pyramidal neurons in the fluctuation‐driven regimeZerlaut, Y. ; Teleńczuk, B. ; Deleuze, C. ; Bal, T. ; Ouanounou, G. ; Destexhe, A.The Journal of physiology, 2016-07, Vol.594 (13), p.3791-3808 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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9 |
Material Type: Artigo
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The importance of naturally attenuated SARS‐CoV ‐2 in the fight against COVID ‐19Armengaud, Jean ; Delaunay‐Moisan, Agnès ; Thuret, Jean‐Yves ; van Anken, Eelco ; Acosta‐Alvear, Diego ; Aragón, Tomás ; Arias, Carolina ; Blondel, Marc ; Braakman, Ineke ; Collet, Jean‐François ; Courcol, René ; Danchin, Antoine ; Deleuze, Jean‐François ; Lavigne, Jean‐Philippe ; Lucas, Sophie ; Michiels, Thomas ; Moore, Edward R. B. ; Nixon‐Abell, Jonathon ; Rossello‐Mora, Ramon ; Shi, Zheng‐Li ; Siccardi, Antonio G. ; Sitia, Roberto ; Tillett, Daniel ; Timmis, Kenneth N. ; Toledano, Michel B. ; van der Sluijs, Peter ; Vicenzi, ElisaEnvironmental microbiology, 2020, Vol.22 (6), p.1997-2000 [Periódico revisado por pares]Society for Applied Microbiology and Wiley-BlackwellTexto completo disponível |
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10 |
Material Type: Artigo
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Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English SheepdogsMerveille, A.‐C ; Battaille, G ; Billen, F ; Deleuze, S ; Fredholm, M ; Thomas, A ; Clercx, C ; Lequarré, A.‐SJournal of veterinary internal medicine, 2014-05, Vol.28 (3), p.771-778 [Periódico revisado por pares]United States: J.B. LippincottTexto completo disponível |