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Material Type: Artigo
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UTILLdb, a Pisum sativum in silico forward and reverse genetics toolDalmais, Marion ; Schmidt, Julien ; Le Signor, Christine ; Moussy, Francoise ; Burstin, Judith ; Savois, Vincent ; Aubert, Gregoire ; Brunaud, Veronique ; de Oliveira, Yannick ; Guichard, Cecile ; Thompson, Richard ; Bendahmane, AbdelhafidGenome Biology, 2008-01, Vol.9 (2), p.R43-R43 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Heterologous mitochondrial DNA recombination in human cellsD'Aurelio, Marilena ; Gajewski, Carl D. ; Lin, Michael T. ; Mauck, William M. ; Shao, Leon Z. ; Lenaz, Giorgio ; Moraes, Carlos T. ; Manfredi, GiovanniHuman molecular genetics, 2004-12, Vol.13 (24), p.3171-3179 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Mammalian sex determination: a molecular dramaSwain, A ; Lovell-Badge, RGenes & development, 1999-04, Vol.13 (7), p.755-767 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunctionRobertson, Nahid G. ; Jones, Sherri M. ; Sivakumaran, Theru A. ; Giersch, Anne B.S. ; Jurado, Sara A. ; Call, Linda M. ; Miller, Constance E. ; Maison, Stéphane F. ; Liberman, M. Charles ; Morton, Cynthia C.Human molecular genetics, 2008-11, Vol.17 (21), p.3426-3434 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2LEMMERS, Richard J. L. F ; TAWIL, Rabi ; KROM, Yvonne D ; KLOOSTER, Rinse ; YU SUN ; DEN DUNNEN, Johan T ; HELMER, Quinta ; DONLIN-SMITH, Colleen M ; PADBERG, George W ; VAN ENGELEN, Baziel G. M ; DE GREEF, Jessica C ; AARTSMA-RUS, Annemieke M ; PETEK, Lisa M ; FRANTS, Rune R ; DE VISSER, Marianne ; DESNUELLE, Claude ; SACCONI, Sabrina ; FILIPPOVA, Galina N ; BAKKER, Bert ; BAMSHAD, Michael J ; TAPSCOTT, Stephen J ; MILLER, Daniel G ; VAN DER MAAREL, Silvere M ; BALOG, Judit ; BLOCK, Gregory J ; SANTEN, Gijs W. E ; AMELL, Amanda M ; VAN DER VLIET, Patrick J ; ALMOMANI, Rowida ; STRAASHEIJM, Kirsten RNature genetics, 2012-12, Vol.44 (12), p.1370-1374 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSanna-Cherchi, Simone ; Khan, Kamal ; Westland, Rik ; Krithivasan, Priya ; Fievet, Lorraine ; Rasouly, Hila Milo ; Ionita-Laza, Iuliana ; Capone, Valentina P. ; Fasel, David A. ; Kiryluk, Krzysztof ; Kamalakaran, Sitharthan ; Bodria, Monica ; Otto, Edgar A. ; Sampson, Matthew G. ; Gillies, Christopher E. ; Vega-Warner, Virginia ; Vukojevic, Katarina ; Pediaditakis, Igor ; Makar, Gabriel S. ; Mitrotti, Adele ; Verbitsky, Miguel ; Martino, Jeremiah ; Liu, Qingxue ; Na, Young-Ji ; Goj, Vinicio ; Ardissino, Gianluigi ; Gigante, Maddalena ; Gesualdo, Loreto ; Janezcko, Magdalena ; Zaniew, Marcin ; Mendelsohn, Cathy Lee ; Shril, Shirlee ; Hildebrandt, Friedhelm ; van Wijk, Joanna A.E. ; Arapovic, Adela ; Saraga, Marijan ; Allegri, Landino ; Izzi, Claudia ; Scolari, Francesco ; Tasic, Velibor ; Ghiggeri, Gian Marco ; Latos-Bielenska, Anna ; Materna-Kiryluk, Anna ; Mane, Shrikant ; Goldstein, David B. ; Lifton, Richard P. ; Katsanis, Nicholas ; Davis, Erica E. ; Gharavi, Ali G.American journal of human genetics, 2017-11, Vol.101 (5), p.789-802 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A unified mixed-model method for association mapping that accounts for multiple levels of relatednessBuckler, Edward S ; Yu, Jianming ; Pressoir, Gael ; Briggs, William H ; Vroh Bi, Irie ; Yamasaki, Masanori ; Doebley, John F ; McMullen, Michael D ; Gaut, Brandon S ; Nielsen, Dahlia M ; Holland, James B ; Kresovich, StephenNature genetics, 2006-02, Vol.38 (2), p.203-208 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Estimating the Genome-wide Mutation Rate with Three-Way Identity by DescentTian, Xiaowen ; Browning, Brian L. ; Browning, Sharon R.American journal of human genetics, 2019-11, Vol.105 (5), p.883-893 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in ASPRV1 Cause Dominantly Inherited IchthyosisBoyden, Lynn M. ; Zhou, Jing ; Hu, Ronghua ; Zaki, Theodore ; Loring, Erin ; Scott, Jared ; Traupe, Heiko ; Paller, Amy S. ; Lifton, Richard P. ; Choate, Keith A.American journal of human genetics, 2020-07, Vol.107 (1), p.158-163 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in miceMathur, Radhika ; Alver, Burak H ; San Roman, Adrianna K ; Wilson, Boris G ; Wang, Xiaofeng ; Agoston, Agoston T ; Park, Peter J ; Shivdasani, Ramesh A ; Roberts, Charles W MNature genetics, 2017-02, Vol.49 (2), p.296-302 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |