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A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
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A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

Alioto, Tyler S ; Buchhalter, Ivo ; Derdak, Sophia ; Hutter, Barbara ; Eldridge, Matthew D ; Hovig, Eivind ; Heisler, Lawrence E ; Beck, Timothy A ; Simpson, Jared T ; Tonon, Laurie ; Sertier, Anne-Sophie ; Patch, Ann-Marie ; Jäger, Natalie ; Ginsbach, Philip ; Drews, Ruben ; Paramasivam, Nagarajan ; Kabbe, Rolf ; Chotewutmontri, Sasithorn ; Diessl, Nicolle ; Previti, Christopher ; Schmidt, Sabine ; Brors, Benedikt ; Feuerbach, Lars ; Heinold, Michael ; Gröbner, Susanne ; Korshunov, Andrey ; Tarpey, Patrick S ; Butler, Adam P ; Hinton, Jonathan ; Jones, David ; Menzies, Andrew ; Raine, Keiran ; Shepherd, Rebecca ; Stebbings, Lucy ; Teague, Jon W ; Ribeca, Paolo ; Giner, Francesc Castro ; Beltran, Sergi ; Raineri, Emanuele ; Dabad, Marc ; Heath, Simon C ; Gut, Marta ; Denroche, Robert E ; Harding, Nicholas J ; Yamaguchi, Takafumi N ; Fujimoto, Akihiro ; Nakagawa, Hidewaki ; Quesada, Víctor ; Valdés-Mas, Rafael ; Nakken, Sigve ; Vodák, Daniel ; Bower, Lawrence ; Lynch, Andrew G ; Anderson, Charlotte L ; Waddell, Nicola ; Pearson, John V ; Grimmond, Sean M ; Peto, Myron ; Spellman, Paul ; He, Minghui ; Kandoth, Cyriac ; Lee, Semin ; Zhang, John ; Létourneau, Louis ; Ma, Singer ; Seth, Sahil ; Torrents, David ; Xi, Liu ; Wheeler, David A ; López-Otín, Carlos ; Campo, Elías ; Campbell, Peter J ; Boutros, Paul C ; Puente, Xose S ; Gerhard, Daniela S ; Pfister, Stefan M ; McPherson, John D ; Hudson, Thomas J ; Schlesner, Matthias ; Lichter, Peter ; Eils, Roland ; Jones, David T W ; Gut, Ivo G

Nature communications, 2015-12, Vol.6 (1), p.10001-10001, Article 10001 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

Nakagawa, Kenji ; Gonzalez-Roca, Eva ; Souto, Alejandro ; Kawai, Toshinao ; Umebayashi, Hiroaki ; Campistol, Josep María ; Cañellas, Jeronima ; Takei, Syuji ; Kobayashi, Norimoto ; Callejas-Rubio, Jose Luis ; Ortego-Centeno, Norberto ; Ruiz-Ortiz, Estíbaliz ; Rius, Fina ; Anton, Jordi ; Iglesias, Estibaliz ; Jimenez-Treviño, Santiago ; Vargas, Carmen ; Fernandez-Martin, Julian ; Calvo, Inmaculada ; Hernández-Rodríguez, José ; Mendez, María ; Dordal, María Teresa ; Basagaña, Maria ; Bujan, Segundo ; Yashiro, Masato ; Kubota, Tetsuo ; Koike, Ryuji ; Akuta, Naoko ; Shimoyama, Kumiko ; Iwata, Naomi ; Saito, Megumu K ; Ohara, Osamu ; Kambe, Naotomo ; Yasumi, Takahiro ; Izawa, Kazushi ; Kawai, Tomoki ; Heike, Toshio ; Yagüe, Jordi ; Nishikomori, Ryuta ; Aróstegui, Juan I

Annals of the rheumatic diseases, 2015-03, Vol.74 (3), p.603-610 [Periódico revisado por pares]

England: BMJ Publishing Group

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3
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
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Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

Giancane, Gabriella ; Ter Haar, Nienke M ; Wulffraat, Nico ; Vastert, Sebastiaan J ; Barron, Karyl ; Hentgen, Veronique ; Kallinich, Tilmann ; Ozdogan, Huri ; Anton, Jordi ; Brogan, Paul ; Cantarini, Luca ; Frenkel, Joost ; Galeotti, Caroline ; Gattorno, Marco ; Grateau, Gilles ; Hofer, Michael ; Kone-Paut, Isabelle ; Kuemmerle-Deschner, Jasmin ; Lachmann, Helen J ; Simon, Anna ; Demirkaya, Erkan ; Feldman, Brian ; Uziel, Yosef ; Ozen, Seza

Annals of the Rheumatic Diseases, 2015-04, Vol.74 (4), p.635-641 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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4
Ordenació del consell genètic i de les anàlisis genètiques en trastorns o malalties genètiques constitutives i somàtiques: unitats d'alta especialització (06/2015)
Ordenació del consell genètic i de les anàlisis genètiques en trastorns o malalties genètiques constitutives i somàtiques: unitats d'alta especialització (06/2015)
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Ordenació del consell genètic i de les anàlisis genètiques en trastorns o malalties genètiques constitutives i somàtiques: unitats d'alta especialització (06/2015)

Servei Català de la Salut 2015

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5
Discovering the 3' UTR-mediated regulation of alpha-synuclein
Discovering the 3' UTR-mediated regulation of alpha-synuclein
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Discovering the 3' UTR-mediated regulation of alpha-synuclein

Marchese, Domenica ; Botta-Orfila, Teresa ; Cirillo, Davide ; Rodriguez, Juan Antonio ; Livi, Carmen Maria ; Fernández-Santiago, Rubén ; Ezquerra, Mario ; Martí, Maria J ; Bechara, Elias ; Tartaglia, Gian Gaetano

Nucleic acids research, 2017-12, Vol.45 (22), p.12888-12903 [Periódico revisado por pares]

England: Oxford University Press

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6
Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia
Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia
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Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia

Sintas Vives, Cèlia ; Carreño, Oriel ; Fernández Castillo, Noelia ; Corominas, Roser ; Vila Pueyo, Marta ; Toma, Claudio ; Cuenca León, Ester ; Barroeta, Isabel ; Roig, Carles ; Volpini Bertrán, Víctor ; Macaya Ruiz, Alfons ; Cormand Rifà, Bru

Scientific reports, 2017-05 [Periódico revisado por pares]

Nature Publishing Group

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7
Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia
Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia
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Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia

Sintas Vives, Cèlia ; Carreño, Oriel ; Fernández Castillo, Noelia ; Corominas, Roser ; Vila Pueyo, Marta ; Toma, Claudio ; Cuenca León, Ester ; Barroeta, Isabel ; Roig, Carles ; Volpini Bertrán, Víctor ; Macaya Ruiz, Alfons ; Cormand Rifà, Bru

Scientific reports, 2017-05 [Periódico revisado por pares]

Nature Publishing Group

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8
Genome-wide association study identifies three new melanoma susceptibility loci
Genome-wide association study identifies three new melanoma susceptibility loci
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Genome-wide association study identifies three new melanoma susceptibility loci

Bishop on behalf of the GenoMEL Consortium, D Timothy ; Barrett, Jennifer H ; Iles, Mark M ; Harland, Mark ; Taylor, John C ; Aitken, Joanne F ; Andresen, Per Arne ; Akslen, Lars A ; Armstrong, Bruce K ; Avril, Marie-Francoise ; Azizi, Esther ; Bakker, Bert ; Bergman, Wilma ; Bianchi-Scarrà, Giovanna ; Bressac-de Paillerets, Brigitte ; Calista, Donato ; Cannon-Albright, Lisa A ; Corda, Eve ; Cust, Anne E ; D bniak, Tadeusz ; Duffy, David ; Dunning, Alison M ; Easton, Douglas F ; Friedman, Eitan ; Galan, Pilar ; Ghiorzo, Paola ; Giles, Graham G ; Hansson, Johan ; Hocevar, Marko ; Höiom, Veronica ; Hopper, John L ; Ingvar, Christian ; Janssen, Bart ; Jenkins, Mark A ; Jönsson, Göran ; Kefford, Richard F ; Landi, Giorgio ; Landi, Maria Teresa ; Lang, Julie ; Lubi ski, Jan ; Mackie, Rona ; Malvehy, Josep ; Martin, Nicholas G ; Molven, Anders ; Montgomery, Grant W ; van Nieuwpoort, Frans A ; Novakovic, Srdjan ; Olsson, Håkan ; Pastorino, Lorenza ; Puig, Susana ; Puig-Butille, Joan Anton ; Randerson-Moor, Juliette ; Snowden, Helen ; Tuominen, Rainer ; Van Belle, Patricia ; van der Stoep, Nienke ; Whiteman, David C ; Zelenika, Diana ; Han, Jiali ; Fang, Shenying ; Lee, Jeffrey E ; Wei, Qingyi ; Lathrop, G Mark ; Gillanders, Elizabeth M ; Brown, Kevin M ; Goldstein, Alisa M ; Kanetsky, Peter A ; Mann, Graham J ; MacGregor, Stuart ; Elder, David E ; Amos, Christopher I ; Hayward, Nicholas K ; Gruis, Nelleke A ; Demenais, Florence ; Bishop, Julia A Newton

Nature genetics, 2011-11, Vol.43 (11), p.1108-1113 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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9
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Panagiotakaki, Eleni ; De Grandis, Elisa ; Stagnaro, Michela ; Heinzen, Erin L ; Fons, Carmen ; Sisodiya, Sanjay ; de Vries, Boukje ; Goubau, Christophe ; Weckhuysen, Sarah ; Kemlink, David ; Scheffer, Ingrid ; Lesca, Gaëtan ; Rabilloud, Muriel ; Klich, Amna ; Ramirez-Camacho, Alia ; Ulate-Campos, Adriana ; Campistol, Jaume ; Giannotta, Melania ; Moutard, Marie-Laure ; Doummar, Diane ; Hubsch-Bonneaud, Cecile ; Jaffer, Fatima ; Cross, Helen ; Gurrieri, Fiorella ; Tiziano, Danilo ; Nevsimalova, Sona ; Nicole, Sophie ; Neville, Brian ; van den Maagdenberg, Arn M J M ; Mikati, Mohamad ; Goldstein, David B ; Vavassori, Rosaria ; Arzimanoglou, Alexis

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.123-123, Article 123 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
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Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

Fernández-Falgueras, Anna ; Sarquella-Brugada, Georgia ; Brugada, Josep ; Brugada, Ramon ; Campuzano, Oscar

Biology (Basel, Switzerland), 2017-01, Vol.6 (1), p.7 [Periódico revisado por pares]

Switzerland: MDPI AG

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