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Material Type: Artigo
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Leveraging family relatedness to detect participation bias in genetic studiesAdams, Mark JNature genetics, 2023-08, Vol.55 (8), p.1254-1255 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Hypermyelination and demyelinating peripheral neuropathy in Pmp22 -deficient miceAdlkofer, Katrin ; Martini, Rudolf ; Aguzzi, Adriano ; Zielasek, Jürgen ; Toyka, Klaus V ; Suter, UeliNature genetics, 1995-11, Vol.11 (3), p.274-280 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Identification of Cd36 ( Fat ) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive ratsAitman, Timothy J ; Glazier, Anne M ; Wallace, Caroline A ; Cooper, Lisa D ; Norsworthy, Penny J ; Wahid, Faisal N ; Al-Majali, Khulood M ; Trembling, Paul M ; Mann, Christopher J ; Shoulders, Carol C ; Graf, Daniel ; Lezin, Elizabeth St ; Kurtz, Theodore W ; Kren, Vladimir ; Pravenec, Michal ; Ibrahimi, Azeddine ; Abumrad, Nada A ; Stanton, Lawrence W ; Scott, JamesNature genetics, 1999-01, Vol.21 (1), p.76-83 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Somatic mutation distributions in cancer genomes vary with three-dimensional chromatin structureAkdemir, Kadir C ; Le, Victoria T ; Kim, Justin M ; Killcoyne, Sarah ; King, Devin A ; Lin, Ya-Ping ; Tian, Yanyan ; Inoue, Akira ; Amin, Samirkumar B ; Robinson, Frederick S ; Nimmakayalu, Manjunath ; Herrera, Rafael E ; Lynn, Erica J ; Chan, Kin ; Seth, Sahil ; Klimczak, Leszek J ; Gerstung, Moritz ; Gordenin, Dmitry A ; O'Brien, John ; Li, Lei ; Deribe, Yonathan Lissanu ; Verhaak, Roel G ; Campbell, Peter J ; Fitzgerald, Rebecca ; Morrison, Ashby J ; Dixon, Jesse R ; Andrew Futreal, PNature genetics, 2020-11, Vol.52 (11), p.1178-1188 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionAkizu, Naiara ; Cantagrel, Vincent ; Zaki, Maha S ; Al-Gazali, Lihadh ; Wang, Xin ; Rosti, Rasim Ozgur ; Dikoglu, Esra ; Gelot, Antoinette Bernabe ; Rosti, Basak ; Vaux, Keith K ; Scott, Eric M ; Silhavy, Jennifer L ; Schroth, Jana ; Copeland, Brett ; Schaffer, Ashleigh E ; Gordts, Philip L S M ; Esko, Jeffrey D ; Buschman, Matthew D ; Field, Seth J ; Napolitano, Gennaro ; Abdel-Salam, Ghada M ; Ozgul, R Koksal ; Sagıroglu, Mahmut Samil ; Azam, Matloob ; Ismail, Samira ; Aglan, Mona ; Selim, Laila ; Mahmoud, Iman G ; Abdel-Hadi, Sawsan ; Badawy, Amera El ; Sadek, Abdelrahim A ; Mojahedi, Faezeh ; Kayserili, Hulya ; Masri, Amira ; Bastaki, Laila ; Temtamy, Samia ; Müller, Ulrich ; Desguerre, Isabelle ; Casanova, Jean-Laurent ; Dursun, Ali ; Gunel, Murat ; Gabriel, Stacey B ; de Lonlay, Pascale ; Gleeson, Joseph GNature genetics, 2015-05, Vol.47 (5), p.528-534 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Frequent somatic CDH1 loss-of-function mutations in plasmacytoid variant bladder cancerAl-Ahmadie, Hikmat A ; Iyer, Gopa ; Lee, Byron H ; Scott, Sasinya N ; Mehra, Rohit ; Bagrodia, Aditya ; Jordan, Emmet J ; Gao, Sizhi Paul ; Ramirez, Ricardo ; Cha, Eugene K ; Desai, Neil B ; Zabor, Emily C ; Ostrovnaya, Irina ; Gopalan, Anuradha ; Chen, Ying-Bei ; Fine, Samson W ; Tickoo, Satish K ; Gandhi, Anupama ; Hreiki, Joseph ; Viale, Agnès ; Arcila, Maria E ; Dalbagni, Guido ; Rosenberg, Jonathan E ; Bochner, Bernard H ; Bajorin, Dean F ; Berger, Michael F ; Reuter, Victor E ; Taylor, Barry S ; Solit, David BNature genetics, 2016-04, Vol.48 (4), p.356-358 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Issues in searching molecular sequence databasesAltschul, Stephen F ; Boguski, Mark S ; Gish, Warren ; Wootton, John CNature genetics, 1994-02, Vol.6 (2), p.119-129 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Modeling tissue co-regulation estimates tissue-specific contributions to diseaseAmariuta, Tiffany ; Siewert-Rocks, Katherine ; Price, Alkes LNature genetics, 2023-09, Vol.55 (9), p.1503-1511 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Chromosome-scale selective sweeps shape Caenorhabditis elegans genomic diversityANDERSEN, Erik C ; GERKE, Justin P ; SHAPIRO, Joshua A ; CRISSMAN, Jonathan R ; GHOSH, Rajarshi ; BLOOM, Joshua S ; FELIX, Marie-Anne ; KRUGLYAK, LeonidNature genetics, 2012-03, Vol.44 (3), p.285-290 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Ongoing chromosomal instability and karyotype evolution in human colorectal cancer organoidsBolhaqueiro, Ana C F ; Ponsioen, Bas ; Bakker, Bjorn ; Klaasen, Sjoerd J ; Kucukkose, Emre ; van Jaarsveld, Richard H ; Vivié, Judith ; Verlaan-Klink, Ingrid ; Hami, Nizar ; Spierings, Diana C J ; Sasaki, Nobuo ; Dutta, Devanjali ; Boj, Sylvia F ; Vries, Robert G J ; Lansdorp, Peter M ; van de Wetering, Marc ; van Oudenaarden, Alexander ; Clevers, Hans ; Kranenburg, Onno ; Foijer, Floris ; Snippert, Hugo J G ; Kops, Geert J P LNature genetics, 2019-05, Vol.51 (5), p.824-834 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |