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1 |
Material Type: Artigo
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Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesisWeinstock, Joshua S ; Gopakumar, Jayakrishnan ; Burugula, Bala Bharathi ; Uddin, Md Mesbah ; Jahn, Nikolaus ; Belk, Julia A ; Bouzid, Hind ; Daniel, Bence ; Miao, Zhuang ; Ly, Nghi ; Mack, Taralynn M ; Luna, Sofia E ; Prothro, Katherine P ; Laurie, Cecelia A ; Broome, Jai G ; Taylor, Kent D ; Guo, Xiuqing ; Sinner, Moritz F ; von Falkenhausen, Aenne S ; Kääb, Stefan ; Shuldiner, Alan R ; O'Connell, Jeffrey R ; Lewis, Joshua P ; Boerwinkle, Eric ; Barnes, Kathleen C ; Chami, Nathalie ; Kenny, Eimear E ; Loos, Ruth J F ; Fornage, Myriam ; Hou, Lifang ; Lloyd-Jones, Donald M ; Redline, Susan ; Cade, Brian E ; Psaty, Bruce M ; Bis, Joshua C ; Brody, Jennifer A ; Silverman, Edwin K ; Yun, Jeong H ; Qiao, Dandi ; Palmer, Nicholette D ; Freedman, Barry I ; Bowden, Donald W ; Cho, Michael H ; DeMeo, Dawn L ; Vasan, Ramachandran S ; Yanek, Lisa R ; Peyser, Patricia A ; He, Jiang ; Rienstra, Michiel ; Van der Harst, Pim ; Kaplan, Robert ; Heckbert, Susan R ; Smith, Nicholas L ; Wiggins, Kerri L ; Arnett, Donna K ; Tiwari, Hemant ; Cutler, Michael J ; Knight, Stacey ; Muhlestein, J Brent ; Correa, Adolfo ; Raffield, Laura M ; Gao, Yan ; de Andrade, Mariza ; Rotter, Jerome I ; Rich, Stephen S ; Tracy, Russell P ; Konkle, Barbara A ; Johnsen, Jill M ; Melander, Olle ; Nilsson, Peter M ; Duggirala, Ravindranath ; Curran, Joanne E ; Blangero, John ; McGarvey, Stephen ; Williams, L Keoki ; Xiao, Shujie ; Yang, Mao ; Gu, C Charles ; Lee, Wen-Jane ; Marcus, Gregory M ; Kane, John P ; Pullinger, Clive R ; Darbar, Dawood ; Roden, Dan M ; Albert, Christine ; Kooperberg, Charles ; Manson, JoAnn E ; Desai, Pinkal ; Johnson, Andrew D ; Mathias, Rasika A ; Blackwell, Thomas W ; Abecasis, Goncalo R ; Smith, Albert V ; Kang, Hyun M ; Natarajan, Pradeep ; Kitzman, Jacob O ; Whitsel, Eric A ; Reiner, Alexander P ; Bick, Alexander G ; Jaiswal, SiddharthaNature (London), 2023-04, Vol.616 (7958), p.755-763 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafishAspatwar, Ashok ; Tolvanen, Martti E E ; Jokitalo, Eija ; Parikka, Mataleena ; Ortutay, Csaba ; Harjula, Sanna-Kaisa E ; Rämet, Mika ; Vihinen, Mauno ; Parkkila, SeppoHuman molecular genetics, 2013-02, Vol.22 (3), p.417-432 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses)Panagopoulos, Ioannis ; Mertens, Fredrik ; Isaksson, Margareth ; Mandahl, NilsCancer genetics and cytogenetics, 2005, Vol.156 (1), p.74-76United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Absence of Ras mutations in rat DMBA-induced mammary tumorsSamuelson, Emma ; Nilsson, Johanna ; Walentinsson, Anna ; Szpirer, Claude ; Behboudi, AfrouzMolecular carcinogenesis, 2009-02, Vol.48 (2), p.150-155 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsNg, Bobby G. ; Shiryaev, Sergey A. ; Rymen, Daisy ; Eklund, Erik A. ; Raymond, Kimiyo ; Kircher, Martin ; Abdenur, Jose E. ; Alehan, Fusun ; Midro, Alina T. ; Bamshad, Michael J. ; Barone, Rita ; Berry, Gerard T. ; Brumbaugh, Jane E. ; Buckingham, Kati J. ; Clarkson, Katie ; Cole, F. Sessions ; O'Connor, Shawn ; Cooper, Gregory M. ; Van Coster, Rudy ; Demmer, Laurie A. ; Diogo, Luisa ; Fay, Alexander J. ; Ficicioglu, Can ; Fiumara, Agata ; Gahl, William A. ; Ganetzky, Rebecca ; Goel, Himanshu ; Harshman, Lyndsay A. ; He, Miao ; Jaeken, Jaak ; James, Philip M. ; Katz, Daniel ; Keldermans, Liesbeth ; Kibaek, Maria ; Kornberg, Andrew J. ; Lachlan, Katherine ; Lam, Christina ; Yaplito-Lee, Joy ; Nickerson, Deborah A. ; Peters, Heidi L. ; Race, Valerie ; Régal, Luc ; Rush, Jeffrey S. ; Rutledge, S. Lane ; Shendure, Jay ; Souche, Erika ; Sparks, Susan E. ; Trapane, Pamela ; Sanchez-Valle, Amarilis ; Vilain, Eric ; Vøllo, Arve ; Waechter, Charles J. ; Wang, Raymond Y. ; Wolfe, Lynne A. ; Wong, Derek A. ; Wood, Tim ; Yang, Amy C. ; Matthijs, Gert ; Freeze, Hudson H.Human mutation, 2016-07, Vol.37 (7), p.653-660 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfectaLindahl, Katarina ; Kindmark, Andreas ; Laxman, Navya ; Åström, Eva ; Rubin, Carl-Johan ; Ljunggren, ÖstenInternational journal of medical sciences, 2013-01, Vol.10 (10), p.1333-1343Australia: Ivyspring International PublisherTexto completo disponível |
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Material Type: Livro
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Allozyme Electrophoresis: A Handbook for Animal Systematics and Population StudiesRichardson, B. J ; Baverstock, P. R ; Adams, MSan Diego: Elsevier Science & Technology 1987Texto completo disponível |
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Material Type: Artigo
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Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 geneHERTZ, Jens Michael ; PERSSON, Uif ; JUNCKER, Inger ; SEGELMARK, MartenHuman genetics, 2005-11, Vol.118 (1), p.23-28 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Material Type: Artigo
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomesRheinbay, Esther ; Nielsen, Morten Muhlig ; Abascal, Federico ; Wala, Jeremiah A ; Shapira, Ofer ; Tiao, Grace ; Hornshøj, Henrik ; Hess, Julian M ; Juul, Randi Istrup ; Lin, Ziao ; Feuerbach, Lars ; Sabarinathan, Radhakrishnan ; Madsen, Tobias ; Kim, Jaegil ; Mularoni, Loris ; Shuai, Shimin ; Lanzós, Andrés ; Herrmann, Carl ; Maruvka, Yosef E ; Shen, Ciyue ; Amin, Samirkumar B ; Bandopadhayay, Pratiti ; Bertl, Johanna ; Boroevich, Keith A ; Busanovich, John ; Carlevaro-Fita, Joana ; Chakravarty, Dimple ; Chan, Calvin Wing Yiu ; Craft, David ; Dhingra, Priyanka ; Diamanti, Klev ; Fonseca, Nuno A ; Gonzalez-Perez, Abel ; Guo, Qianyun ; Hamilton, Mark P ; Haradhvala, Nicholas J ; Hong, Chen ; Isaev, Keren ; Johnson, Todd A ; Juul, Malene ; Kahles, Andre ; Kahraman, Abdullah ; Kim, Youngwook ; Komorowski, Jan ; Kumar, Kiran ; Kumar, Sushant ; Lee, Donghoon ; Lehmann, Kjong-Van ; Li, Yilong ; Liu, Eric Minwei ; Lochovsky, Lucas ; Park, Keunchil ; Pich, Oriol ; Roberts, Nicola D ; Saksena, Gordon ; Schumacher, Steven E ; Sidiropoulos, Nikos ; Sieverling, Lina ; Sinnott-Armstrong, Nasa ; Stewart, Chip ; Tamborero, David ; Tubio, Jose M C ; Umer, Husen M ; Uusküla-Reimand, Liis ; Wadelius, Claes ; Wadi, Lina ; Yao, Xiaotong ; Zhang, Cheng-Zhong ; Zhang, Jing ; Haber, James E ; Hobolth, Asger ; Imielinski, Marcin ; Kellis, Manolis ; Lawrence, Michael S ; von Mering, Christian ; Nakagawa, Hidewaki ; Raphael, Benjamin J ; Rubin, Mark A ; Sander, Chris ; Stein, Lincoln D ; Stuart, Joshua M ; Tsunoda, Tatsuhiko ; Wheeler, David A ; Johnson, Rory ; Reimand, Jüri ; Gerstein, Mark ; Khurana, Ekta ; Campbell, Peter J ; López-Bigas, Núria ; Weischenfeldt, Joachim ; Beroukhim, Rameen ; Martincorena, Iñigo ; Pedersen, Jakob Skou ; Getz, GadNature (London), 2020-02, Vol.578 (7793), p.102-111 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study populationMarouf, Chaymaa ; Göhler, Stella ; Filho, Miguel Inacio Da Silva ; Hajji, Omar ; Hemminki, Kari ; Nadifi, Sellama ; Försti, AstaBMC cancer, 2016-02, Vol.16 (161), p.165-165, Article 165 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |