Search Results - "VARIANTS"

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 by Jackson, Victoria E., Ntalla, Ioanna, Sayers, Ian, Morris, Richard, Whincup, Peter, Casas, Juan-Pablo, Amuzu, Antoinette, Choi, Minkyoung, Dale, Caroline, Kumari, Meena, Engmann, Jorgen, Kalsheker, Noor, Chappell, Sally, Guetta-Baranes, Tamar, McKeever, Tricia M., Palmer, Colin N.A., Tavendale, Roger, Holloway, John W., Sayer, Avan A., Dennison, Elaine M., Cooper, Cyrus, Bafadhel, Mona, Barker, Bethan, Brightling, Chris, Bolton, Charlotte E., John, Michelle E., Parker, Stuart G., Moffat, Miriam F., Wardlaw, Andrew J., Connolly, Martin J., Porteous, David J., Smith, Blair H., Padmanabhan, Sandosh, Hocking, Lynne, Stirrups, Kathleen E., Deloukas, Panos, Strachan, David P., Hall, Ian P., Tobin, Martin D., Wain, Louise V.

Subjects: “…Low frequency exonic variants…”
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Investigating the contribution of kainate receptors to neurodevelopmental disorders by Koromina, Maria

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Positional information resolves structural variations and uncovers an evolutionarily divergent genetic locus in accessions of Arabidopsis thaliana. by Lai, A., Denton-Giles, Matthew, Mueller-Roeber, B., SChippers, J., Dijkwel, P., Dijkwel, P.

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Processing punctuation and word changes in different editions of prose fiction by Carrol, Gareth, Conklin, Kathy, Guy, Josephine, Scott, Rebekah

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The effect of gestational diabetes, and its treatment, on the expression of Occludin, VE-cadherin & Plakoglobin splice variants in the human placental endothelial barrier by Villota Villafuerte, Stephany D.

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Mammographic density and breast cancer risk in Asian women by Mariapun, Shivaani

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Analysis of SOX1 regulation in stem cell and cancerous cell lines by Ahmad, Azaz

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Automatic application update with user customisation integration and collision detection for model driven applications by Davis, Jon, Chang, Elizabeth

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources by Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., Robinson, P.N.

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All traveling wave exact solutions of the variant Boussinesq equations by Yuan, W., Meng, F., Huang, Y., Wu, Yong Hong

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A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression by Carrasquillo, Minerva, Allen, Mariet, Burgess, Jeremy D., Medway, Christopher, Morgan, Kevin

Subjects: “…Alzheimer's disease; eQTL; TREM2; TREML1; Regulatory variant…”
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Variant logic meta-data management for model driven applications by Davis, Jon, Chang, Elizabeth

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Functional genetics of lung function associated gene GPR126 by Hall, Robert

Subjects: “…GPR126; Pulmonary disease; Gene expression profile; Missense variant Ser123Gly' Cell signalling…”
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Sequencing directly from clinical specimens reveals genetic variations in HCMV-encoded chemokine receptor us28 that may influence antibody levels and interactions with human chemok... by Waters, Shelley, Agostino, Mark, Lee, S., Ariyanto, I., Kresoje, N., Leary, S., Munyard, Kylie, Gaudieri, S., Gaff, J., Irish, A., Keil, A.D., Price, Patricia, Allcock, R.J.N.

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Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas by Geyer, Felipe C., Li, Anqi, Papanastasiou, Anastasios D., Smith, Alison, Selenica, Pier, Burke, Kathleen A., Edelweiss, Marcia, Wen, Huei-Chi, Piscuoglio, Salvatore, Schultheis, Anne M., Martelotto, Luciano G., Pareja, Fresia, Brandes, Alissa, Lozada, John, Macedo, Gabriel S., de Filippo, Maria R., Jungbluth, Achim A., Foschini, Maria Pia, Wen, Hannah Y., Brogi, Edi, Palazzo, Juan, Rubin, Brian P., Ng, Charlotte K.Y., Norton, Larry, Rakha, Emad A., Varga, Zsuzsanna, Ellis, Ian O., Chandarlapaty, Sarat, Weigelt, Britta, Reis-Filho, Jorge S.

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Lifecycle and generational application of automated updates to MDA EIS applications by Davis, Jon, Chang, Elizabeth

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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects by Middeldorp, C.M., Felix, J.F., Mahajan, A., Ahluwalia, T.S., Auvinen, J., Bartels, M., Bilbao, J.R., Bisgaard, H., Bønnelykke, K., Boomsma, D.I., Bradfield, J.P., Bustamante, M., Chen, Z., Curtin, J.A., Custovic, A., Smith, G.D., Davies, G.E., Duijts, L., Eastwood, Peter, Eliasen, A.U., Estivill, X., Evans, D.M., Fedko, I.O., Gauderman, W.J., Gilliland, F., Granell, R., Grant, S.F.A., Guxens, M., Hakonarson, H., Hartman, C.A., Heinrich, J., Henders, A.K., Henderson, J., Holt, P., Hottenga, J.J., Hyppönen, E., Iñíguez, C., Jacobsson, B., Jaddoe, V.W.V., Järvelin, M.R., Jugessur, A., Kähönen, M., Kaprio, J., Karhunen, V., Kemp, J.P., Koppelman, G.H., Kumar, A., Lahti, J., Larsson, H., Lawlor, D.A., Lehtimäki, T., Li, J., Lichtenstein, P., Lundström, S., Lyytikäinen, L.P., Magnus, P., Mamun, A.A., Mannikko, M., Martin, N.G., Mbarek, H., Medland, S.E., Melén, E., Najman, J.M., Nivard, M.G., Nolte, I.M., Oldehinkel, A.J., Pahkala, K., Palviainen, T., Paternoster, L., Pennell, C.E., Pershagen, G., Pitkänen, N., Plomin, R., Pourcain, B.S., Power, C., Pulkkinen, L., Räikkönen, K., Raitakari, O.T., Richmond, R.C., Rivadeneira, F., Rose, R.J., Santa-Marina, L., Scott, J.G., Sebert, S., Selzam, S., Simpson, A., Sleiman, P.M.A., Snieder, H., Standl, M., Stoltenberg, C., Strachan, D.P., Straker, Leon, Strandberg, T., Sunyer, J., Thiering, E., Tiemeier, H., Timpson, N.J., Torrent, M., Uitterlinden, A.G.

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A experimental study of a cable-pulleys spring-damper energy dissipation system for buildings by Hernandez, Francisco, Astroza, Rodrigo, Beltran, Juan Felipe, Zhang, Xihong, Mercado, Vicente

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Investigating Genetic Overlap between Alzheimer’s Disease, Lipids, and Coronary Artery Disease: A Large-Scale Genome-Wide Cross Trait Analysis by Kirby, A., Porter, T., Adewuyi, Emmanuel, Laws, S.M.

Subjects: “…local analysis of [co]variant associations…”
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