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1 |
Material Type: Artigo
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Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosisBARANZINI, Sergio E ; MUDGE, Joann ; MAY, Gregory D ; WOODWARD, Jimmy E ; CAILLIER, Stacy J ; MCELROY, Joseph P ; GOMEZ, Refujia ; PANDO, Marcelo J ; CLENDENEN, Leonda E ; GANUSOVA, Elena E ; SCHILKEY, Faye D ; RAMARAJ, Thiruvarangan ; VAN VELKINBURGH, Jennifer C ; KHAN, Omar A ; HUNTLEY, Jim J ; SHUJUN LUO ; KWOK, Pui-Yan ; WU, Thomas D ; SCHROTH, Gary P ; OKSENBERG, Jorge R ; HAULER, Stephen L ; KINGSMORE, Stephen F ; KHANKHANIAN, Pouya ; KHREBTUKOVA, Irina ; MILLER, Neil A ; LU ZHANG ; FARMER, Andrew D ; BELL, Callum J ; KIM, Ryan WNature (London), 2010-04, Vol.464 (7293), p.1351-1356 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The early-life environment of a pig shapes the phenotypes of its social partners in adulthoodCanario, L ; Lundeheim, N ; Bijma, PHeredity, 2017-06, Vol.118 (6), p.534-541 [Periódico revisado por pares]England: Springer Nature B.VTexto completo disponível |
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3 |
Material Type: Artigo
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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex FamiliesLeppa, Virpi M. ; Kravitz, Stephanie N. ; Martin, Christa Lese ; Andrieux, Joris ; Le Caignec, Cedric ; Martin-Coignard, Dominique ; DyBuncio, Christina ; Sanders, Stephan J. ; Lowe, Jennifer K. ; Cantor, Rita M. ; Geschwind, Daniel H.American journal of human genetics, 2016-09, Vol.99 (3), p.540-554 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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Exome sequencing identifies the cause of a mendelian disorderHuff, Chad D ; Jabs, Ethylin Wang ; Shendure, Jay ; Tabor, Holly K ; Nickerson, Deborah A ; Bamshad, Michael J ; Buckingham, Kati J ; Bigham, Abigail W ; Shannon, Paul T ; Lee, Choli ; Dent, Karin M ; Ng, Sarah BNature genetics, 2010-01, Vol.42 (1), p.30-35 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Cross-disorder risk gene CACNA1C differentially modulates susceptibility to psychiatric disorders during development and adulthoodDedic, N ; Pöhlmann, M L ; Richter, J S ; Mehta, D ; Czamara, D ; Metzger, M W ; Dine, J ; Bedenk, B T ; Hartmann, J ; Wagner, K V ; Jurik, A ; Almli, L M ; Lori, A ; Moosmang, S ; Hofmann, F ; Wotjak, C T ; Rammes, G ; Eder, M ; Chen, A ; Ressler, K J ; Wurst, W ; Schmidt, M V ; Binder, E B ; Deussing, J MMolecular psychiatry, 2018-03, Vol.23 (3), p.533-543 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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New findings for phenotype–genotype correlations in a large European series of holoprosencephaly casesMercier, Sandra ; Dubourg, Christèle ; Garcelon, Nicolas ; Campillo-Gimenez, Boris ; Gicquel, Isabelle ; Belleguic, Marion ; Ratié, Leslie ; Pasquier, Laurent ; Loget, Philippe ; Bendavid, Claude ; Jaillard, Sylvie ; Rochard, Lucie ; Quélin, Chloé ; Dupé, Valérie ; David, Véronique ; Odent, SylvieJournal of medical genetics, 2011-11, Vol.48 (11), p.752-760 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Orphan CpG islands identify numerous conserved promoters in the mammalian genomeIllingworth, Robert S ; Gruenewald-Schneider, Ulrike ; Webb, Shaun ; Kerr, Alastair R W ; James, Keith D ; Turner, Daniel J ; Smith, Colin ; Harrison, David J ; Andrews, Robert ; Bird, Adrian P Reik, WolfPLoS genetics, 2010-09, Vol.6 (9), p.e1001134-e1001134 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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8 |
Material Type: Artigo
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Microsatellite DNA variation and the evolution, domestication and phylogeography of taurine and zebu cattle (Bos taurus and Bos indicus)MacHugh, D.E. (Trinity College, Dublin, Ireland.) ; Shriver, M.D ; Loftus, R.T ; Cunningham, P ; Bradley, D.GGenetics (Austin), 1997-07, Vol.146 (3), p.1071-1086 [Periódico revisado por pares]United States: Genetics Soc AmericaTexto completo disponível |
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9 |
Material Type: Artigo
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Mountain gorilla genomes reveal the impact of long-term population decline and inbreedingXue, Yali ; Prado-Martinez, Javier ; Sudmant, Peter H. ; Narasimhan, Vagheesh ; Ayub, Qasim ; Szpak, Michal ; Frandsen, Peter ; Chen, Yuan ; Yngvadottir, Bryndis ; Cooper, David N. ; de Manuel, Marc ; Hernandez-Rodriguez, Jessica ; Lobon, Irene ; Siegismund, Hans R. ; Pagani, Luca ; Quail, Michael A. ; Hvilsom, Christina ; Mudakikwa, Antoine ; Eichler, Evan E. ; Cranfield, Michael R. ; Marques-Bonet, Tomas ; Tyler-Smith, Chris ; Scally, AylwynScience (American Association for the Advancement of Science), 2015-04, Vol.348 (6231), p.242-245 [Periódico revisado por pares]United States: American Association for the Advancement of ScienceTexto completo disponível |
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10 |
Material Type: Artigo
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CEP152 is a genome maintenance protein disrupted in Seckel syndromeKalay, Ersan ; Wollnik, Bernd ; Yigit, Gökhan ; Aslan, Yakup ; Brown, Karen E ; Pohl, Esther ; Bicknell, Louise S ; Kayserili, Hülya ; Li, Yun ; Tüysüz, Beyhan ; Nürnberg, Gudrun ; Kiess, Wieland ; Koegl, Manfred ; Baessmann, Ingelore ; Buruk, Kurtulus ; Toraman, Bayram ; Kayipmaz, Saadettin ; Kul, Sibel ; Ikbal, Mevlit ; Turner, Daniel J ; Taylor, Martin S ; Aerts, Jan ; Scott, Carol ; Milstein, Karen ; Dollfus, Helene ; Wieczorek, Dagmar ; Brunner, Han G ; Hurles, Matthew ; Jackson, Andrew P ; Rauch, Anita ; Nürnberg, Peter ; Karagüzel, AhmetNature genetics, 2011-01, Vol.43 (1), p.23-26 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |