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1
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Rice, Gillian I ; Del Toro Duany, Yoandris ; Jenkinson, Emma M ; Forte, Gabriella Ma ; Anderson, Beverley H ; Ariaudo, Giada ; Bader-Meunier, Brigitte ; Baildam, Eileen M ; Battini, Roberta ; Beresford, Michael W ; Casarano, Manuela ; Chouchane, Mondher ; Cimaz, Rolando ; Collins, Abigail E ; Cordeiro, Nuno Jv ; Dale, Russell C ; Davidson, Joyce E ; De Waele, Liesbeth ; Desguerre, Isabelle ; Faivre, Laurence ; Fazzi, Elisa ; Isidor, Bertrand ; Lagae, Lieven ; Latchman, Andrew R ; Lebon, Pierre ; Li, Chumei ; Livingston, John H ; Lourenço, Charles M ; Mancardi, Maria Margherita ; Masurel-Paulet, Alice ; McInnes, Iain B ; Menezes, Manoj P ; Mignot, Cyril ; O'Sullivan, James ; Orcesi, Simona ; Picco, Paolo P ; Riva, Enrica ; Robinson, Robert A ; Rodriguez, Diana ; Salvatici, Elisabetta ; Scott, Christiaan ; Szybowska, Marta ; Tolmie, John L ; Vanderver, Adeline ; Vanhulle, Catherine ; Vieira, Jose Pedro ; Webb, Kate ; Whitney, Robyn N ; Williams, Simon G ; Wolfe, Lynne A ; Zuberi, Sameer M ; Hur, Sun ; Crow, Yanick J

Nature genetics, 2014-05, Vol.46 (5), p.503-509 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
A large West Antarctic Ice Sheet explains early Neogene sea-level amplitude
A large West Antarctic Ice Sheet explains early Neogene sea-level amplitude
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A large West Antarctic Ice Sheet explains early Neogene sea-level amplitude

Marschalek, J W ; Zurli, L ; Talarico, F ; van de Flierdt, T ; Vermeesch, P ; Carter, A ; Beny, F ; Bout-Roumazeilles, V ; Sangiorgi, F ; Hemming, S R ; Pérez, L F ; Colleoni, F ; Prebble, J G ; van Peer, T E ; Perotti, M ; Shevenell, A E ; Browne, I ; Kulhanek, D K ; Levy, R ; Harwood, D ; Sullivan, N B ; Meyers, S R ; Griffith, E M ; Hillenbrand, C-D ; Gasson, E ; Siegert, M J ; Keisling, B ; Licht, K J ; Kuhn, G ; Dodd, J P ; Boshuis, C ; De Santis, L ; McKay, R M

Nature (London), 2021-12, Vol.600 (7889), p.450-455 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Restoration prioritization must be informed by marginalized people/Reply
Restoration prioritization must be informed by marginalized people/Reply
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Restoration prioritization must be informed by marginalized people/Reply

Fleischman, rest ; Coleman, Eric ; Fischer, Harry ; Kashwan, Prakash ; Pfeifer, Marion ; Ramprasad, Vijay ; Solorzano, Claudia Rodriguez ; Veldman, Joseph W ; Strassburg, Bernardo B N ; Iribarrem, Alvaro ; Beyer, Hawthorne L ; Cordeiro, Carlos Leandro ; Crouzeilles, Renato ; Jakovac, Catarina ; Junqueira, André Braga ; Lacerda, Eduardo ; Latawiec, Agnieszka E ; Balmford, Andrew ; Brooks, Thomas M ; Butchart, Stuart H M ; Chazdon, Robin L ; Erb, Karl-Heinz ; Brancalion, Pedro ; Buchanan, Graeme ; Cooper, David ; Díaz, Sandra ; Donald, Paul F ; Kapos, Valerie ; Leclère, David ; Miles, Lera ; Obersteiner, Michael ; Plutzar, Christoph ; Scaramuzza, Carlos Alberto de Mattos ; Scarano, Fabio R ; Visconti, Piero

Nature (London), 2022-07, Vol.607 (7918), p.E5-E9 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Ionizable Lipid Nanoparticle-Mediated TRAIL mRNA Delivery in the Tumor Microenvironment to Inhibit Colon Cancer Progression
Ionizable Lipid Nanoparticle-Mediated TRAIL mRNA Delivery in the Tumor Microenvironment to Inhibit Colon Cancer Progression
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Ionizable Lipid Nanoparticle-Mediated TRAIL mRNA Delivery in the Tumor Microenvironment to Inhibit Colon Cancer Progression

da Silva, Walison Nunes ; Carvalho Costa, Pedro Augusto ; Scalzo Júnior, Sérgio Ricardo Aluotto ; Ferreira, Heloísa A S ; Prazeres, Pedro Henrique Dias Moura ; Campos, Caroline Leonel Vasconcelos ; Rodrigues Alves, Marco Túllio ; Alves da Silva, Natália Jordana ; de Castro Santos, Ana Luiza ; Guimarães, Lays Cordeiro ; Chen Ferris, Maria Eduarda ; Thatte, Ajay ; Hamilton, Alex ; Bicalho, Kelly Alves ; Lobo, Anderson Oliveira ; Santiago, Helton da Costa ; da Silva Barcelos, Lucíola ; Figueiredo, Maria Marta ; Teixeira, Mauro Martins ; Vasconcelos Costa, Vivian ; Mitchell, Michael J ; Frézard, Frédéric ; Pires Goulart Guimaraes, Pedro

International journal of nanomedicine, 2024-01, Vol.19, p.2655-2673 [Periódico revisado por pares]

New Zealand: Dove Medical Press Limited

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5
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
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Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Chen, Chia-Yen ; Richards, Alexander L ; Voloudakis, Georgios ; Alexander, Madeline ; Alizadeh, Behrooz Z ; Als, Thomas D ; Athanasiu, Lavinia ; Bass, Nicholas J ; Benyamin, Beben ; Bonassi, Stefano ; Braun, Alice ; Cordeiro, Quirino ; Dinan, Timothy ; Duan, Jubao ; Ducci, Giuseppe ; Gonzalez-Pinto, Ana ; Gratten, Jacob ; Herms, Stefan ; Iyegbe, Conrad ; Joa, Inge ; Julia, Antonio ; Kelly, Brian J ; Kim, Sung-Wan ; Kraft, Julia ; Kucinskiene, Zita Ausrele ; Landi, Stefano ; Lee, Phil H ; Li, Miaoxin ; Lieberman, Jeffrey ; Luykx, Jurjen J ; Magnusson, Patrik K.E ; Maher, Brion S ; Marsal, Sara ; Martin, Alicia R ; Mattheisen, Manuel ; Meier, Sandra ; Milanova, Vihra ; Mitjans, Marina ; Molden, Espen ; Mondelli, Valeria ; Myin-Germeys, Inez ; O'Brien, Niamh Louise ; Pantelis, Christos ; Pfuhlmann, Bruno ; Pietilainen, Olli ; Reichenberg, Abraham ; Roe, Cheryl ; Roth, Julian ; Rothermundt, Matthias ; Savitz, Adam ; Siever, Larry J ; Stain, Helen J ; Steen, Nils Eiel ; Steixner-Kumar, Agnes A ; Strengman, Eric ; Stroup, T. Scott ; Szatkiewicz, Jin P ; van Winkel, Ruud ; Webb, Bradley T ; Xu, Zhida ; Zhu, Feng ; Bray, Nicholas J ; Chen, Wei J ; Gandal, Michael J ; Hougaard, David M ; Hwu, Hai-Gwo ; Moran, Jennifer L ; Mors, Ole ; Pirinen, Matti ; Pulver, Ann E ; Tsuang, Debby W ; Wang, Shi-Heng ; Arango, Celso ; Borglum, Anders D ; Campion, Dominique ; Cichon, Sven ; Collier, David A ; Curtis, David ; Esko, Tonu ; Gawlik, Micha ; Gejman, Pablo ; Golimbet, Vera ; Hultman, Christina M ; Li, Qingqin S ; Malhotra, Anil K ; Malhotra, Dheeraj ; McIntosh, Andrew ; Paciga, Sara A ; Palotie, Aarno ; Rivera, Margarita ; Sanders, Alan R ; Schwab, Sibylle G ; St Clair, David ; Vawter, Marquis P ; Wildenauer, Dieter B ; Holmans, Peter A ; Owen, Michael J ; Wray, Naomi R ; Sullivan, Patrick F ; O'Donovan, Michael C

NATURE, 2022-04, Vol.604 (7906), p.502-508 [Periódico revisado por pares]

NATURE PORTFOLIO

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6
Development and internal validation of the multivariable CIPHER (Collaborative Integrated Pregnancy High-dependency Estimate of Risk) clinical risk prediction model
Development and internal validation of the multivariable CIPHER (Collaborative Integrated Pregnancy High-dependency Estimate of Risk) clinical risk prediction model
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Development and internal validation of the multivariable CIPHER (Collaborative Integrated Pregnancy High-dependency Estimate of Risk) clinical risk prediction model

Payne, Beth A ; Ryan, Helen ; Bone, Jeffrey ; Magee, Laura A ; Aarvold, Alice B ; Mark Ansermino, J ; Bhutta, Zulfiqar A ; Bowen, Mary ; Guilherme Cecatti, J ; Chazotte, Cynthia ; Crozier, Tim ; de Pont, Anne-Cornélie J M ; Demirkiran, Oktay ; Duan, Tao ; Kallen, Marlot ; Ganzevoort, Wessel ; Geary, Michael ; Goffman, Dena ; Hutcheon, Jennifer A ; Joseph, K S ; Lapinsky, Stephen E ; Lataifeh, Isam ; Li, Jing ; Liskonova, Sarka ; Hamel, Emily M ; McAuliffe, Fionnuala M ; O'Herlihy, Colm ; Mol, Ben W J ; Seaward, P Gareth R ; Tadros, Ramzy ; Togal, Turkan ; Qureshi, Rahat ; Vivian Ukah, U ; Vasquez, Daniela ; Wallace, Euan ; Yong, Paul ; Zhou, Vivian ; Walley, Keith R ; von Dadelszen, Peter

Critical care (London, England), 2018-10, Vol.22 (1), p.278-13, Article 278 [Periódico revisado por pares]

England: BioMed Central

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7
A B-cell mitogen from a pathogenic trypanosome is a eukaryotic proline racemase
A B-cell mitogen from a pathogenic trypanosome is a eukaryotic proline racemase
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A B-cell mitogen from a pathogenic trypanosome is a eukaryotic proline racemase

Minoprio, Paola ; Reina-San-Martín, Bernardo ; Degrave, Wim ; Rougeot, Catherine ; Cosson, Alain ; Chamond, Nathalie ; Cordeiro-da-Silva, Anabela ; Arala-Chaves, Mario ; Coutinho, Antonio

Nature Medicine, 2000-08, Vol.6 (8), p.890-897 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

André, Jean-Luc ; Lama, Giuliana ; Joseph, Mark ; Loirat, Chantal ; Illies, Friederike ; Bogdanovic, Radovan ; Milford, David V ; Saraiva, Jorge M ; Stein, Anja ; Takashima, Hiroshi ; Tizard, Jane ; Rosenbarker, Lisa ; Cockfield, Sandra ; Petty, Elizabeth M ; John, Joy ; Burguet, Antoine ; Schmidt, Beate ; Smith, Graham C ; Lupski, James R ; Weksberg, Rosanna ; Cordeiro, Isabel ; Yan, Jiong ; Fründ, Stefan ; Stankiewicz, Pawel ; McLeod, D. Ross ; Stockton, David W ; Rodrigo, Francisco ; Kaitila, Ilkka ; Spranger, Jürgen ; Thiele, Hannelore ; Boerkoel, Cornelius F

Nature genetics, 2002-02, Vol.30 (2), p.215-220 [Periódico revisado por pares]

London: Nature Publishing Group

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9
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
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Artigo 		Adicionar ao Meu Espaço

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Rice, Gillian I ; del Toro Duany, Yoandris ; Jenkinson, Emma M ; Forte, Gabriella MA ; Anderson, Beverley H ; Ariaudo, Giada ; Bader-Meunier, Brigitte ; Baildam, Eileen M ; Battini, Roberta ; Beresford, Michael W ; Casarano, Manuela ; Chouchane, Mondher ; Cimaz, Rolando ; Collins, Abigail E ; Cordeiro, Nuno JV ; Dale, Russell C ; Davidson, Joyce E ; De Waele, Liesbeth ; Desguerre, Isabelle ; Faivre, Laurence ; Fazzi, Elisa ; Isidor, Bertrand ; Lagae, Lieven ; Latchman, Andrew R ; Lebon, Pierre ; Li, Chumei ; Livingston, John H ; Lourenço, Charles M ; Mancardi, Maria Margherita ; Masurel-Paulet, Alice ; McInnes, Iain B ; Menezes, Manoj P ; Mignot, Cyril ; O’Sullivan, James ; Orcesi, Simona ; Picco, Paolo P ; Riva, Enrica ; Robinson, Robert A ; Rodriguez, Diana ; Salvatici, Elisabetta ; Scott, Christiaan ; Szybowska, Marta ; Tolmie, John L ; Vanderver, Adeline ; Vanhulle, Catherine ; Vieira, Jose Pedro ; Webb, Kate ; Whitney, Robyn N ; Williams, Simon G ; Wolfe, Lynne A ; Zuberi, Sameer M ; Hur, Sun ; Crow, Yanick J

2014

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