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Refinado por: Base de dados/Biblioteca: DOAJ Directory of Open Access Journals remover assunto: Mutation remover Genomes remover
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1
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
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Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Hadjadj, Jérôme ; Castro, Carla Noemi ; Tusseau, Maud ; Stolzenberg, Marie-Claude ; Mazerolles, Fabienne ; Aladjidi, Nathalie ; Armstrong, Martin ; Ashrafian, Houman ; Cutcutache, Ioana ; Ebetsberger-Dachs, Georg ; Elliott, Katherine S. ; Durieu, Isabelle ; Fabien, Nicole ; Fusaro, Mathieu ; Heeg, Maximilian ; Schmitt, Yohan ; Bras, Marc ; Knight, Julian C. ; Lega, Jean-Christophe ; Lesca, Gaetan ; Mathieu, Anne-Laure ; Moreews, Marion ; Moreira, Baptiste ; Nosbaum, Audrey ; Page, Matthew ; Picard, Cécile ; Ronan Leahy, T. ; Rouvet, Isabelle ; Ryan, Ethel ; Sanlaville, Damien ; Schwarz, Klaus ; Skelton, Andrew ; Viallard, Jean-Francois ; Viel, Sebastien ; Villard, Marine ; Callebaut, Isabelle ; Picard, Capucine ; Walzer, Thierry ; Ehl, Stephan ; Fischer, Alain ; Neven, Bénédicte ; Belot, Alexandre ; Rieux-Laucat, Frédéric

Nature communications, 2020-10, Vol.11 (1), p.5341-5341, Article 5341 [Periódico revisado por pares]

London: Nature Publishing Group

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2
Immune diversity sheds light on missing variation in worldwide genetic diversity panels
Immune diversity sheds light on missing variation in worldwide genetic diversity panels
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Immune diversity sheds light on missing variation in worldwide genetic diversity panels

Abi-Rached, Laurent ; Gouret, Philippe ; Yeh, Jung-Hua ; Di Cristofaro, Julie ; Pontarotti, Pierre ; Picard, Christophe ; Paganini, Julien DeAngelis, Margaret M

PloS one, 2018-10, Vol.13 (10), p.e0206512-e0206512 [Periódico revisado por pares]

United States: Public Library of Science

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3
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
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Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

Wang, Yiqin ; Picard, Martin ; Gu, Zhenglong Girirajan, Santhosh

PLoS genetics, 2016-10, Vol.12 (10), p.e1006391-e1006391 [Periódico revisado por pares]

United States: Public Library of Science

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4
Investigations into SARS-CoV-2 and other coronaviruses on mink farms in France late in the first year of the COVID-19 pandemic
Investigations into SARS-CoV-2 and other coronaviruses on mink farms in France late in the first year of the COVID-19 pandemic
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Investigations into SARS-CoV-2 and other coronaviruses on mink farms in France late in the first year of the COVID-19 pandemic

Wasniewski, Marine ; Boué, Franck ; Richomme, Céline ; Simon-Lorière, Etienne ; der Werf, Sylvie Van ; Donati, Flora ; Enouf, Vincent ; Blanchard, Yannick ; Beven, Véronique ; Leperchois, Estelle ; Leterrier, Bryce ; Corbet, Sandrine ; Le Gouil, Meriadeg ; Monchatre-Leroy, Elodie ; Picard-Meyer, Evelyne Motayo, Babatunde Olanrewaju

PloS one, 2023-08, Vol.18 (8), p.e0290444-e0290444 [Periódico revisado por pares]

United States: Public Library of Science

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5
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
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Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

Crequer, Amandine ; Picard, Capucine ; Patin, Etienne ; D'Amico, Aurelia ; Abhyankar, Avinash ; Munzer, Martine ; Debré, Marianne ; Zhang, Shen-Ying ; de Saint-Basile, Geneviève ; Fischer, Alain ; Abel, Laurent ; Orth, Gérard ; Casanova, Jean-Laurent ; Jouanguy, Emmanuelle Wurfel, Mark M.

PloS one, 2012-08, Vol.7 (8), p.e44010-e44010 [Periódico revisado por pares]

United States: Public Library of Science

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6
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

Charbit-Henrion, Fabienne ; Bègue, Bernadette ; Sierra, Anaïs ; Hanein, Sylvain ; Stolzenberg, Marie-Claude ; Li, Zhi ; Pellegrini, Sandra ; Garcelon, Nicolas ; Jeanpierre, Marc ; Neven, Bénédicte ; Loge, Isabelle ; Picard, Capucine ; Rosain, Jérémie ; Bustamante, Jacinta ; Le Lorc'h, Marc ; Pigneur, Bénédicte ; Fernandes, Alicia ; Rieux-Laucat, Frédéric ; Amil Dias, Jorge ; Ruemmele, Frank M ; Cerf-Bensussan, Nadine van Zelm, Menno C

PloS one, 2018-10, Vol.13 (10), p.e0205826-e0205826 [Periódico revisado por pares]

United States: Public Library of Science

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7
Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain
Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain
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Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain

Klein, Hans-Ulrich ; Trumpff, Caroline ; Yang, Hyun-Sik ; Lee, Annie J ; Picard, Martin ; Bennett, David A ; De Jager, Philip L

Molecular neurodegeneration, 2021-11, Vol.16 (1), p.75-75, Article 75 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
In-Depth Characterization of Live Vaccines Used in Europe for Oral Rabies Vaccination of Wildlife
In-Depth Characterization of Live Vaccines Used in Europe for Oral Rabies Vaccination of Wildlife
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In-Depth Characterization of Live Vaccines Used in Europe for Oral Rabies Vaccination of Wildlife

Cliquet, Florence ; Picard-Meyer, Evelyne ; Mojzis, Miroslav ; Dirbakova, Zuzana ; Muizniece, Zita ; Jaceviciene, Ingrida ; Mutinelli, Franco ; Matulova, Marta ; Frolichova, Jitka ; Rychlik, Ivan ; Celer, Vladimir Schnell, Matthias Johannes

PloS one, 2015-10, Vol.10 (10), p.e0141537-e0141537 [Periódico revisado por pares]

United States: Public Library of Science

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9
Genome-wide high-resolution aCGH analysis of gestational choriocarcinomas
Genome-wide high-resolution aCGH analysis of gestational choriocarcinomas
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Genome-wide high-resolution aCGH analysis of gestational choriocarcinomas

Poaty, Henriette ; Coullin, Philippe ; Peko, Jean Félix ; Dessen, Philippe ; Diatta, Ange Lucien ; Valent, Alexander ; Leguern, Eric ; Prévot, Sophie ; Gombé-Mbalawa, Charles ; Candelier, Jean-Jacques ; Picard, Jean-Yves ; Bernheim, Alain Krahe, Ralf

PloS one, 2012-01, Vol.7 (1), p.e29426-e29426 [Periódico revisado por pares]

United States: Public Library of Science

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10
Biological roles of the Podospora anserina mitochondrial Lon protease and the importance of its N-domain
Biological roles of the Podospora anserina mitochondrial Lon protease and the importance of its N-domain
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Biological roles of the Podospora anserina mitochondrial Lon protease and the importance of its N-domain

Adam, Céline ; Picard, Marguerite ; Déquard-Chablat, Michelle ; Sellem, Carole H ; Hermann-Le Denmat, Sylvie ; Contamine, Véronique Lee, Yin-Won

PloS one, 2012-05, Vol.7 (5), p.e38138 [Periódico revisado por pares]

United States: Public Library of Science

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