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Telomerase activation by genomic rearrangements in high-risk neuroblastoma
Telomerase activation by genomic rearrangements in high-risk neuroblastoma
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Telomerase activation by genomic rearrangements in high-risk neuroblastoma

Peifer, Martin ; Hertwig, Falk ; Roels, Frederik ; Dreidax, Daniel ; Gartlgruber, Moritz ; Menon, Roopika ; Krämer, Andrea ; Roncaioli, Justin L ; Sand, Frederik ; Heuckmann, Johannes M ; Ikram, Fakhera ; Schmidt, Rene ; Ackermann, Sandra ; Engesser, Anne ; Kahlert, Yvonne ; Vogel, Wenzel ; Altmüller, Janine ; Nürnberg, Peter ; Thierry-Mieg, Jean ; Thierry-Mieg, Danielle ; Mariappan, Aruljothi ; Heynck, Stefanie ; Mariotti, Erika ; Henrich, Kai-Oliver ; Gloeckner, Christian ; Bosco, Graziella ; Leuschner, Ivo ; Schweiger, Michal R ; Savelyeva, Larissa ; Watkins, Simon C ; Shao, Chunxuan ; Bell, Emma ; Höfer, Thomas ; Achter, Viktor ; Lang, Ulrich ; Theissen, Jessica ; Volland, Ruth ; Saadati, Maral ; Eggert, Angelika ; de Wilde, Bram ; Berthold, Frank ; Peng, Zhiyu ; Zhao, Chen ; Shi, Leming ; Ortmann, Monika ; Büttner, Reinhard ; Perner, Sven ; Hero, Barbara ; Schramm, Alexander ; Schulte, Johannes H ; Herrmann, Carl ; O'Sullivan, Roderick J ; Westermann, Frank ; Thomas, Roman K ; Fischer, Matthias

Nature (London), 2015-10, Vol.526 (7575), p.700-704 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk

Jansen, Iris E ; Savage, Jeanne E ; Watanabe, Kyoko ; Bryois, Julien ; Williams, Dylan M ; Steinberg, Stacy ; Sealock, Julia ; Karlsson, Ida K ; Hägg, Sara ; Athanasiu, Lavinia ; Voyle, Nicola ; Proitsi, Petroula ; Witoelar, Aree ; Stringer, Sven ; Aarsland, Dag ; Almdahl, Ina S ; Andersen, Fred ; Bergh, Sverre ; Bettella, Francesco ; Bjornsson, Sigurbjorn ; Brækhus, Anne ; Bråthen, Geir ; de Leeuw, Christiaan ; Desikan, Rahul S ; Djurovic, Srdjan ; Dumitrescu, Logan ; Fladby, Tormod ; Hohman, Timothy J ; Jonsson, Palmi V ; Kiddle, Steven J ; Rongve, Arvid ; Saltvedt, Ingvild ; Sando, Sigrid B ; Selbæk, Geir ; Shoai, Maryam ; Skene, Nathan G ; Snaedal, Jon ; Stordal, Eystein ; Ulstein, Ingun D ; Wang, Yunpeng ; White, Linda R ; Hardy, John ; Hjerling-Leffler, Jens ; Sullivan, Patrick F ; van der Flier, Wiesje M ; Dobson, Richard ; Davis, Lea K ; Stefansson, Hreinn ; Stefansson, Kari ; Pedersen, Nancy L ; Ripke, Stephan ; Andreassen, Ole A ; Posthuma, Danielle

Nature genetics, 2019-03, Vol.51 (3), p.404-413 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

Campos, Berta ; Balmaña, Judith ; Gardenyes, Josep ; Valenzuela, Irene ; Abad, Oscar ; Fàbregas, Pere ; Volpini, Víctor ; Díez, Orland

Breast cancer research and treatment, 2013-06, Vol.139 (2), p.597-602 [Periódico revisado por pares]

Boston: Springer US

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4
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Niemi, Mari E K ; Martin, Hilary C ; Rice, Daniel L ; Gallone, Giuseppe ; Gordon, Scott ; Kelemen, Martin ; McAloney, Kerrie ; McRae, Jeremy ; Radford, Elizabeth J ; Yu, Sui ; Gecz, Jozef ; Martin, Nicholas G ; Wright, Caroline F ; Fitzpatrick, David R ; Firth, Helen V ; Hurles, Matthew E ; Barrett, Jeffrey C

Nature (London), 2018-10, Vol.562 (7726), p.268-271 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Ishiura, Hiroyuki ; Shibata, Shota ; Yoshimura, Jun ; Suzuki, Yuta ; Qu, Wei ; Doi, Koichiro ; Almansour, M Asem ; Kikuchi, Junko Kanda ; Taira, Makiko ; Mitsui, Jun ; Takahashi, Yuji ; Ichikawa, Yaeko ; Mano, Tatsuo ; Iwata, Atsushi ; Harigaya, Yasuo ; Matsukawa, Miho Kawabe ; Matsukawa, Takashi ; Tanaka, Masaki ; Shirota, Yuichiro ; Ohtomo, Ryo ; Kowa, Hisatomo ; Date, Hidetoshi ; Mitsue, Aki ; Hatsuta, Hiroyuki ; Morimoto, Satoru ; Murayama, Shigeo ; Shiio, Yasushi ; Saito, Yuko ; Mitsutake, Akihiko ; Kawai, Mizuho ; Sasaki, Takuya ; Sugiyama, Yusuke ; Hamada, Masashi ; Ohtomo, Gaku ; Terao, Yasuo ; Nakazato, Yoshihiko ; Takeda, Akitoshi ; Sakiyama, Yoshio ; Umeda-Kameyama, Yumi ; Shinmi, Jun ; Ogata, Katsuhisa ; Kohno, Yutaka ; Lim, Shen-Yang ; Tan, Ai Huey ; Shimizu, Jun ; Goto, Jun ; Nishino, Ichizo ; Toda, Tatsushi ; Morishita, Shinichi ; Tsuji, Shoji

Nature genetics, 2019-08, Vol.51 (8), p.1222-1232 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Genome-wide association study of multisite chronic pain in UK Biobank
Genome-wide association study of multisite chronic pain in UK Biobank
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Genome-wide association study of multisite chronic pain in UK Biobank

Johnston, Keira J A ; Adams, Mark J ; Nicholl, Barbara I ; Ward, Joey ; Strawbridge, Rona J ; Ferguson, Amy ; McIntosh, Andrew M ; Bailey, Mark E S ; Smith, Daniel J Zhu, Xiaofeng

PLoS genetics, 2019-06, Vol.15 (6), p.e1008164-e1008164 [Periódico revisado por pares]

United States: Public Library of Science

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7
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders
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Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

Eijsbouts, Chris ; Zheng, Tenghao ; Kennedy, Nicholas A ; Bonfiglio, Ferdinando ; Anderson, Carl A ; Moutsianas, Loukas ; Holliday, Joanne ; Shi, Jingchunzi ; Shringarpure, Suyash ; Voda, Alexandru-Ioan ; Farrugia, Gianrico ; Franke, Andre ; Hübenthal, Matthias ; Abecasis, Gonçalo ; Zawistowski, Matthew ; Skogholt, Anne Heidi ; Ness-Jensen, Eivind ; Hveem, Kristian ; Esko, Tõnu ; Teder-Laving, Maris ; Zhernakova, Alexandra ; Camilleri, Michael ; Boeckxstaens, Guy ; Whorwell, Peter J ; Spiller, Robin ; McVean, Gil ; D'Amato, Mauro ; Jostins, Luke ; Parkes, Miles

Nature genetics, 2021-11, Vol.53 (11), p.1543-1552 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Sone, Jun ; Mitsuhashi, Satomi ; Fujita, Atsushi ; Mizuguchi, Takeshi ; Hamanaka, Kohei ; Mori, Keiko ; Koike, Haruki ; Hashiguchi, Akihiro ; Takashima, Hiroshi ; Sugiyama, Hiroshi ; Kohno, Yutaka ; Takiyama, Yoshihisa ; Maeda, Kengo ; Doi, Hiroshi ; Koyano, Shigeru ; Takeuchi, Hideyuki ; Kawamoto, Michi ; Kohara, Nobuo ; Ando, Tetsuo ; Ieda, Toshiaki ; Kita, Yasushi ; Kokubun, Norito ; Tsuboi, Yoshio ; Katoh, Kazutaka ; Kino, Yoshihiro ; Katsuno, Masahisa ; Iwasaki, Yasushi ; Yoshida, Mari ; Tanaka, Fumiaki ; Suzuki, Ikuo K ; Frith, Martin C ; Matsumoto, Naomichi ; Sobue, Gen

Nature genetics, 2019-08, Vol.51 (8), p.1215-1221 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Pathogenic tau-induced piRNA depletion promotes neuronal death through transposable element dysregulation in neurodegenerative tauopathies
Pathogenic tau-induced piRNA depletion promotes neuronal death through transposable element dysregulation in neurodegenerative tauopathies
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Pathogenic tau-induced piRNA depletion promotes neuronal death through transposable element dysregulation in neurodegenerative tauopathies

Sun, Wenyan ; Samimi, Hanie ; Gamez, Maria ; Zare, Habil ; Frost, Bess

Nature neuroscience, 2018-08, Vol.21 (8), p.1038-1048 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Mutational dynamics between primary and relapse neuroblastomas
Mutational dynamics between primary and relapse neuroblastomas
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Mutational dynamics between primary and relapse neuroblastomas

Schramm, Alexander ; Köster, Johannes ; Assenov, Yassen ; Althoff, Kristina ; Peifer, Martin ; Mahlow, Ellen ; Odersky, Andrea ; Beisser, Daniela ; Ernst, Corinna ; Henssen, Anton G ; Stephan, Harald ; Schröder, Christopher ; Heukamp, Lukas ; Engesser, Anne ; Kahlert, Yvonne ; Theissen, Jessica ; Hero, Barbara ; Roels, Frederik ; Altmüller, Janine ; Nürnberg, Peter ; Astrahantseff, Kathy ; Gloeckner, Christian ; De Preter, Katleen ; Plass, Christoph ; Lee, Sangkyun ; Lode, Holger N ; Henrich, Kai-Oliver ; Gartlgruber, Moritz ; Speleman, Frank ; Schmezer, Peter ; Westermann, Frank ; Rahmann, Sven ; Fischer, Matthias ; Eggert, Angelika ; Schulte, Johannes H

Nature genetics, 2015-08, Vol.47 (8), p.872-877 [Periódico revisado por pares]

United States: Nature Publishing Group

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