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Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
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Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Schubert, Desirée ; Bode, Claudia ; Kenefeck, Rupert ; Hou, Tie Zheng ; Wing, James B ; Kennedy, Alan ; Bulashevska, Alla ; Petersen, Britt-Sabina ; Schäffer, Alejandro A ; Grüning, Björn A ; Unger, Susanne ; Frede, Natalie ; Baumann, Ulrich ; Witte, Torsten ; Schmidt, Reinhold E ; Dueckers, Gregor ; Niehues, Tim ; Seneviratne, Suranjith ; Kanariou, Maria ; Speckmann, Carsten ; Ehl, Stephan ; Rensing-Ehl, Anne ; Warnatz, Klaus ; Rakhmanov, Mirzokhid ; Thimme, Robert ; Hasselblatt, Peter ; Emmerich, Florian ; Cathomen, Toni ; Backofen, Rolf ; Fisch, Paul ; Seidl, Maximilian ; May, Annette ; Schmitt-Graeff, Annette ; Ikemizu, Shinji ; Salzer, Ulrich ; Franke, Andre ; Sakaguchi, Shimon ; Walker, Lucy S K ; Sansom, David M ; Grimbacher, Bodo

Nature medicine, 2014-12, Vol.20 (12), p.1410-1416 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
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Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Zhang, Xianqin ; Bogunovic, Dusan ; Payelle-Brogard, Béatrice ; Francois-Newton, Véronique ; Speer, Scott D ; Yuan, Chao ; Volpi, Stefano ; Li, Zhi ; Sanal, Ozden ; Mansouri, Davood ; Tezcan, Ilhan ; Rice, Gillian I ; Chen, Chunyuan ; Mansouri, Nahal ; Mahdaviani, Seyed Alireza ; Itan, Yuval ; Boisson, Bertrand ; Okada, Satoshi ; Zeng, Lu ; Wang, Xing ; Jiang, Hui ; Liu, Wenqiang ; Han, Tiantian ; Liu, Delin ; Ma, Tao ; Wang, Bo ; Liu, Mugen ; Liu, Jing-Yu ; Wang, Qing K ; Yalnizoglu, Dilek ; Radoshevich, Lilliana ; Uzé, Gilles ; Gros, Philippe ; Rozenberg, Flore ; Zhang, Shen-Ying ; Jouanguy, Emmanuelle ; Bustamante, Jacinta ; García-Sastre, Adolfo ; Abel, Laurent ; Lebon, Pierre ; Notarangelo, Luigi D ; Crow, Yanick J ; Boisson-Dupuis, Stéphanie ; Casanova, Jean-Laurent ; Pellegrini, Sandra

Nature (London), 2015-01, Vol.517 (7532), p.89-93 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Human metabolic individuality in biomedical and pharmaceutical research
Human metabolic individuality in biomedical and pharmaceutical research
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Human metabolic individuality in biomedical and pharmaceutical research

SUHRE, Karsten ; SHIN, So-Youn ; HAMMOND, Christopher J ; HRABE DEANGELIS, Martin ; KASTENMÜLLER, Gabi ; KÖTTGEN, Anna ; KRONENBERG, Florian ; MANGINO, Massimo ; MEISINGER, Christa ; MEITINGER, Thomas ; MEWES, Hans-Werner ; MILBURN, Michael V ; PETERSEN, Ann-Kristin ; PREHN, Cornelia ; RAFFLER, Johannes ; RIED, Janina S ; RÖMISCH-MARG, Werner ; SAMANI, Nilesh J ; SMALL, Kerrin S ; WICHMANN, H.-Erich ; GUANGJUZHAI ; ILLIG, Thomas ; SPECTOR, Tim D ; MOHNEY, Robert P ; ADAMSKI, Jerzy ; SORANZO, Nicole ; GIEGER, Christian ; MEREDITH, David ; WÄGELE, Brigitte ; ALTMAIER, Elisabeth ; DELOUKAS, Panos ; ERDMANN, Jeanette ; GRUNDBERG, Elin

Nature (London), 2011-09, Vol.477 (7362), p.54-60 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Human Bocavirus infection, Canada
Human Bocavirus infection, Canada
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Human Bocavirus infection, Canada

Bastien, Nathalie ; Brandt, Ken ; Dust, Kerry ; Ward, Diane ; Li, Yan

Emerging infectious diseases, 2006-05, Vol.12 (5), p.848-850 [Periódico revisado por pares]

United States: U.S. National Center for Infectious Diseases

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5
The 2017 human monkeypox outbreak in Nigeria-Report of outbreak experience and response in the Niger Delta University Teaching Hospital, Bayelsa State, Nigeria
The 2017 human monkeypox outbreak in Nigeria-Report of outbreak experience and response in the Niger Delta University Teaching Hospital, Bayelsa State, Nigeria
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The 2017 human monkeypox outbreak in Nigeria-Report of outbreak experience and response in the Niger Delta University Teaching Hospital, Bayelsa State, Nigeria

Ogoina, Dimie ; Izibewule, James Hendris ; Ogunleye, Adesola ; Ederiane, Ebi ; Anebonam, Uchenna ; Neni, Aworabhi ; Oyeyemi, Abisoye ; Etebu, Ebimitula Nicholas ; Ihekweazu, Chikwe Ukwaja, Kingsley Nnanna

PloS one, 2019-04, Vol.14 (4), p.e0214229-e0214229 [Periódico revisado por pares]

United States: Public Library of Science

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6
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Kummeling, Joost ; Stremmelaar, Diante E ; Raun, Nicholas ; Reijnders, Margot R F ; Willemsen, Marjolein H ; Ruiterkamp-Versteeg, Martina ; Schepens, Marga ; Man, Calvin C O ; Gilissen, Christian ; Cho, Megan T ; McWalter, Kirsty ; Sinnema, Margje ; Wheless, James W ; Simon, Marleen E H ; Genetti, Casie A ; Casey, Alicia M ; Terhal, Paulien A ; van der Smagt, Jasper J ; van Gassen, Koen L I ; Joset, Pascal ; Bahr, Angela ; Steindl, Katharina ; Rauch, Anita ; Keller, Elmar ; Raas-Rothschild, Annick ; Koolen, David A ; Agrawal, Pankaj B ; Hoffman, Trevor L ; Powell-Hamilton, Nina N ; Thiffault, Isabelle ; Engleman, Kendra ; Zhou, Dihong ; Bodamer, Olaf ; Hoefele, Julia ; Riedhammer, Korbinian M ; Schwaibold, Eva M C ; Tasic, Velibor ; Schubert, Dirk ; Top, Deniz ; Pfundt, Rolph ; Higgs, Martin R ; Kramer, Jamie M ; Kleefstra, Tjitske

Molecular psychiatry, 2021-06, Vol.26 (6), p.2013-2024 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis
Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis
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Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis

Jaffe, Andrew E ; Straub, Richard E ; Shin, Joo Heon ; Tao, Ran ; Gao, Yuan ; Collado-Torres, Leonardo ; Kam-Thong, Tony ; Xi, Hualin S ; Quan, Jie ; Chen, Qiang ; Colantuoni, Carlo ; Ulrich, William S ; Maher, Brady J ; Deep-Soboslay, Amy ; Cross, Alan J ; Brandon, Nicholas J ; Leek, Jeffrey T ; Hyde, Thomas M ; Kleinman, Joel E ; Weinberger, Daniel R

Nature neuroscience, 2018-08, Vol.21 (8), p.1117-1125 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Sex-specific, male-line transgenerational responses in humans
Sex-specific, male-line transgenerational responses in humans
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Sex-specific, male-line transgenerational responses in humans

Pembrey, Marcus E ; Bygren, Lars Olov ; Kaati, Gunnar ; Edvinsson, Sören ; Northstone, Kate ; Sjöström, Michael ; Golding, Jean

European journal of human genetics : EJHG, 2006-02, Vol.14 (2), p.159-166 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Persistence of livestock associated MRSA CC398 in humans is dependent on intensity of animal contact
Persistence of livestock associated MRSA CC398 in humans is dependent on intensity of animal contact
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Persistence of livestock associated MRSA CC398 in humans is dependent on intensity of animal contact

Graveland, Haitske ; Wagenaar, Jaap A ; Bergs, Kelly ; Heesterbeek, Hans ; Heederik, Dick Boni, Maciej

PloS one, 2011-02, Vol.6 (2), p.e16830 [Periódico revisado por pares]

United States: Public Library of Science

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10
A retrospective epidemiological analysis of human Cryptosporidium infection in China during the past three decades (1987-2018)
A retrospective epidemiological analysis of human Cryptosporidium infection in China during the past three decades (1987-2018)
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A retrospective epidemiological analysis of human Cryptosporidium infection in China during the past three decades (1987-2018)

Liu, Aiqin ; Gong, Baiyan ; Liu, Xiaohua ; Shen, Yujuan ; Wu, Yanchen ; Zhang, Weizhe ; Cao, Jianping Bartelt, Luther A.

PLoS neglected tropical diseases, 2020-03, Vol.14 (3), p.e0008146-e0008146 [Periódico revisado por pares]

United States: Public Library of Science

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