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Original Communication - A simple and rapid quantitative method of detection of the common achondroplasia mutation: Analysis in mismatch repair deficient cells, 01/2004
Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7,500. In more than 97% of cases, it is caused by a recurrent point... 
Genetics | hg04004
Journal
by Roselli, Carolina and Chaffin, Mark D and Weng, Lu-Chen and Aeschbacher, Stefanie and Ahlberg, Gustav and Albert, Christine M and Almgren, Peter and Alonso, Alvaro and Anderson, Christopher D and Aragam, Krishna G and Arking, Dan E and Barnard, John and Bartz, Traci M and Benjamin, Emelia J and Bihlmeyer, Nathan A and Bis, Joshua C and Bloom, Heather L and Boerwinkle, Eric and Bottinger, Erwin B and Brody, Jennifer A and Calkins, Hugh and Campbell, Archie and Cappola, Thomas P and Carlquist, John and Chasman, Daniel I and Chen, Lin Y and Chen, Yii-Der Ida and Choi, Eue-Keun and Choi, Seung Hoan and Christophersen, Ingrid E and Chung, Mina K and Cole, John W and Conen, David and Cook, James and Crijns, Harry J and Cutler, Michael J and Damrauer, Scott M and Daniels, Brian R and Darbar, Dawood and Delgado, Graciela and Denny, Joshua C and Dichgans, Martin and Dörr, Marcus and Dudink, Elton A and Dudley, Samuel C and Esa, Nada and Esko, Tonu and Eskola, Markku and Fatkin, Diane and Felix, Stephan B and Ford, Ian and Franco, Oscar H and Geelhoed, Bastiaan and Grewal, Raji P and Gudnason, Vilmundur and Guo, Xiuqing and Gupta, Namrata and Gustafsson, Stefan and Gutmann, Rebecca and Hamsten, Anders and Harris, Tamara B and Hayward, Caroline and Heckbert, Susan R and Hernesniemi, Jussi and Hocking, Lynne J and Hofman, Albert and Horimoto, Andrea R. V. R and Huang, Jie and Huang, Paul L and Huffman, Jennifer and Ingelsson, Erik and Ipek, Esra Gucuk and Ito, Kaoru and Jimenez-Conde, Jordi and Johnson, Renee and Jukema, J. Wouter and Kääb, Stefan and Kähönen, Mika and Kamatani, Yoichiro and Kane, John P and Kastrati, Adnan and Kathiresan, Sekar and Katschnig-Winter, Petra and Kavousi, Maryam and Kessler, Thorsten and Kietselaer, Bas L and Kirchhof, Paulus and Kleber, Marcus E and Knight, Stacey and Krieger, Jose E and Kubo, Michiaki and Launer, Lenore J and Laurikka, Jari and Lehtimäki, Terho and Leineweber, Kirsten and Lemaitre, Rozenn N and Li, Man and Lim, Hong Euy and Lin, Henry J and Lin, Honghuang and ...
Nature genetics, ISSN 1546-1718, 06/2018, Volume 50, Issue 9, pp. 1225 - 1233
Journal Article
by Malik, Rainer and Chauhan, Ganesh and Traylor, Matthew and Sargurupremraj, Muralidharan and Okada, Yukinori and Mishra, Aniket and Rutten-Jacobs, Loes and Giese, Anne-Katrin and van der Laan, Sander W and Gretarsdottir, Solveig and Anderson, Christopher D and Chong, Michael and Adams, Hieab H. H and Ago, Tetsuro and Almgren, Peter and Amouyel, Philippe and Ay, Hakan and Bartz, Traci M and Benavente, Oscar R and Bevan, Steve and Boncoraglio, Giorgio B and Brown, Robert D and Butterworth, Adam S and Carrera, Caty and Carty, Cara L and Chasman, Daniel I and Chen, Wei-Min and Cole, John W and Correa, Adolfo and Cotlarciuc, Ioana and Cruchaga, Carlos and Danesh, John and de Bakker, Paul I. W and DeStefano, Anita L and den Hoed, Marcel and Duan, Qing and Engelter, Stefan T and Falcone, Guido J and Gottesman, Rebecca F and Grewal, Raji P and Gudnason, Vilmundur and Gustafsson, Stefan and Haessler, Jeffrey and Harris, Tamara B and Hassan, Ahamad and Havulinna, Aki S and Heckbert, Susan R and Holliday, Elizabeth G and Howard, George and Hsu, Fang-Chi and Hyacinth, Hyacinth I and Ikram, M. Arfan and Ingelsson, Erik and Irvin, Marguerite R and Jian, Xueqiu and Jiménez-Conde, Jordi and Johnson, Julie A and Jukema, J. Wouter and Kanai, Masahiro and Keene, Keith L and Kissela, Brett M and Kleindorfer, Dawn O and Kooperberg, Charles and Kubo, Michiaki and Lange, Leslie A and Langefeld, Carl D and Langenberg, Claudia and Launer, Lenore J and Lee, Jin-Moo and Lemmens, Robin and Leys, Didier and Lewis, Cathryn M and Lin, Wei-Yu and Lindgren, Arne G and Lorentzen, Erik and Magnusson, Patrik K and Maguire, Jane and Manichaikul, Ani and McArdle, Patrick F and Meschia, James F and Mitchell, Braxton D and Mosley, Thomas H and Nalls, Michael A and Ninomiya, Toshiharu and O’Donnell, Martin J and Psaty, Bruce M and Pulit, Sara L and Rannikmäe, Kristiina and Reiner, Alexander P and Rexrode, Kathryn M and Rice, Kenneth and Rich, Stephen S and Ridker, Paul M and Rost, Natalia S and Rothwell, Peter M and Rotter, Jerome I and Rundek, Tatjana and Sacco, Ralph L and Sakaue, Saori and Sale, Michele M and ... and Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium and International Stroke Genetics Consortium (ISGC) and AFGen Consortium and NINDS Stroke Genetics Network (SiGN) and UK Young Lacunar DNA Study and EPIC-CVD Consortium and INVENT Consortium and International Genomics of Blood Pressure (iGEN-BP) Consortium and MEGASTROKE Consortium and BioBank Japan Cooperative Hospital Group and COMPASS Consortium and METASTROKE Consortium and EPIC-InterAct Consortium and Neurology Working Group of the CHARGE Consortium and STARNET and Int Stroke Genetics Consortium ISG and Int Genomics Blood Pressure iGEN and Cohorts Heart Aging Res Genomic and BioBank Japan Cooperative Hosp Grp and NINDS Stroke Genetics Network Si and Neurology Working Grp Charge Con
Nature genetics, ISSN 1546-1718, 03/2018, Volume 50, Issue 4, pp. 524 - 537
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Stroke | Genes | Health risks | Risk | Cardiovascular disease | Genomes | Genetic diversity | Regression analysis | Loci | Meta-analysis | Consortia | Pleiotropy | Etiology | Blood pressure | Thromboembolism | Bioinformatics | Asians | Index Medicus
Journal Article
by Pulit, Sara L and McArdle, Patrick F and Wong, Quenna and Malik, Rainer and Gwinn, Katrina and Achterberg, Sefanja and Algra, Ale and Amouyel, Philippe and Anderson, Christopher D and Arnett, Donna K and Arsava, Ethem Murat and Attia, John and Ay, Hakan and Bartz, Traci M and Battey, Thomas and Benavente, Oscar R and Bevan, Steve and Biffi, Alessandro and Bis, Joshua C and Blanton, Susan H and Boncoraglio, Giorgio B and Brown, Robert D and Burgess, Annette I and Carrera, Caty and Chapman Smith, Sherita N and Chasman, Daniel I and Chauhan, Ganesh and Chen, Wei-Min and Cheng, Yu-Ching and Chong, Michael and Cloonan, Lisa K and Cole, John W and Cotlarciuc, Ioana and Cruchaga, Carlos and Cuadrado-Godia, Elisa and Dave, Tushar and Dawson, Jesse and Debette, Stéphanie and Delavaran, Hossein and Dell, Cameron A and Dichgans, Martin and Doheny, Kimberly F and Dong, Chuanhui and Duggan, David J and Engström, Gunnar and Evans, Michele K and Pallejà, Xavier Estivill and Faul, Jessica D and Fernández-Cadenas, Israel and Fornage, Myriam and Frossard, Philippe M and Furie, Karen and Gamble, Dale M and Gieger, Christian and Giese, Anne-Katrin and Giralt-Steinhauer, Eva and González, Hector M and Goris, An and Gretarsdottir, Solveig and Grewal, Raji P and Grittner, Ulrike and Gustafsson, Stefan and Han, Buhm and Hankey, Graeme J and Heitsch, Laura and Higgins, Peter and Hochberg, Marc C and Holliday, Elizabeth and Hopewell, Jemma C and Horenstein, Richard B and Howard, George and Ikram, M Arfan and Ilinca, Andreea and Ingelsson, Erik and Irvin, Marguerite R and Jackson, Rebecca D and Jern, Christina and Conde, Jordi Jiménez and Johnson, Julie A and Jood, Katarina and Kahn, Muhammad S and Kaplan, Robert and Kappelle, L Jaap and Kardia, Sharon L R and Keene, Keith L and Kissela, Brett M and Kleindorfer, Dawn O and Koblar, Simon and Labovitz, Daniel and Launer, Lenore J and Laurie, Cathy C and Laurie, Cecelia A and Lee, Cue Hyunkyu and Lee, Jin-Moo and Lehm, Manuel and Lemmens, Robin and Levi, Christopher and Leys, Didier and Lindgren, Arne and Longstreth, W T and ... and International Stroke Genetics Consortium (ISGC) and NINDS Stroke Genetics Network (SiGN) and NINDS Stroke Genetics Network SiGN and ISGC and Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering and Institute of Neuroscience and Physiology and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi
Lancet neurology, ISSN 1474-4422, 2016, Volume 15, Issue 2, pp. 174 - 184
Journal Article
by Chauhan, Ganesh and Adams, Hieab H H and Satizabal, Claudia L and Bis, Joshua C and Teumer, Alexander and Sargurupremraj, Muralidharan and Hofer, Edith and Trompet, Stella and Hilal, Saima and Smith, Albert Vernon and Jian, Xueqiu and Malik, Rainer and Traylor, Matthew and Pulit, Sara L and Amouyel, Philippe and Mazoyer, Bernard and Zhu, Yi-Cheng and Kaffashian, Sara and Schilling, Sabrina and Beecham, Gary W and Montine, Thomas J and Schellenberg, Gerard D and Kjartansson, Olafur and Guðnason, Vilmundur and Knopman, David S and Griswold, Michael E and Windham, B Gwen and Gottesman, Rebecca F and Mosley, Thomas H and Schmidt, Reinhold and Saba, Yasaman and Schmidt, Helena and Takeuchi, Fumihiko and Yamaguchi, Shuhei and Nabika, Toru and Kato, Norihiro and Rajan, Kumar B and Aggarwal, Neelum T and De Jager, Philip L and Evans, Denis A and Psaty, Bruce M and Rotter, Jerome I and Rice, Kenneth and Lopez, Oscar L and Liao, Jiemin and Chen, Christopher and Cheng, Ching-Yu and Wong, Tien Y and Ikram, Mohammad K and van der Lee, Sven J and Amin, Najaf and Chouraki, Vincent and DeStefano, Anita L and Aparicio, Hugo J and Romero, Jose R and Maillard, Pauline and DeCarli, Charles and Wardlaw, Joanna M and Hernández, Maria Del C Valdés and Luciano, Michelle and Liewald, David and Deary, Ian J and Starr, John M and Bastin, Mark E and Muñoz Maniega, Susana and Slagboom, P Eline and Beekman, Marian and Deelen, Joris and Uh, Hae-Won and Lemmens, Robin and Brodaty, Henry and Wright, Margaret J and Ames, David and Boncoraglio, Giorgio B and Hopewell, Jemma C and Beecham, Ashley H and Blanton, Susan H and Wright, Clinton B and Sacco, Ralph L and Wen, Wei and Thalamuthu, Anbupalam and Armstrong, Nicola J and Chong, Elizabeth and Schofield, Peter R and Kwok, John B and van der Grond, Jeroen and Stott, David J and Ford, Ian and Jukema, J Wouter and Vernooij, Meike W and Hofman, Albert and Uitterlinden, André G and van der Lugt, Aad and Wittfeld, Katharina and Grabe, Hans J and Hosten, Norbert and von Sarnowski, Bettina and Völker, Uwe and Levi, Christopher and Jimenez-Conde, Jordi and ... and Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap and Sahlgrenska akademin and Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy
Neurology, ISSN 1526-632X, 2019, Volume 92, Issue 5
.... Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 × 10-8; and LINC00539/ZDHHC20, p = 5.82 × 10-9... 
Neurologi | Neurology
Journal Article
by Malik, Rainer and Chauhan, Ganesh and Traylor, Matthew and Sargurupremraj, Muralidharan and Okada, Yukinori and Mishra, Aniket and Rutten-Jacobs, Loes and Giese, Anne-Katrin and van der Laan, Sander W and Gretarsdottir, Solveig and Anderson, Christopher D and Chong, Michael and Adams, Hieab H. H and Ago, Tetsuro and Almgren, Peter and Amouyel, Philippe and Ay, Hakan and Bartz, Traci M and Benavente, Oscar R and Bevan, Steve and Boncoraglio, Giorgio B and Brown, Robert D and Butterworth, Adam S and Carrera, Caty and Carty, Cara L and Chasman, Daniel I and Chen, Wei-Min and Cole, John W and Correa, Adolfo and Cotlarciuc, Ioana and Cruchaga, Carlos and Danesh, John and de Bakker, Paul I. W and DeStefano, Anita L and den Hoed, Marcel and Duan, Qing and Engelter, Stefan T and Falcone, Guido J and Gottesman, Rebecca F and Grewal, Raji P and Gudnason, Vilmundur and Gustafsson, Stefan and Haessler, Jeffrey and Harris, Tamara B and Hassan, Ahamad and Havulinna, Aki S and Heckbert, Susan R and Holliday, Elizabeth G and Roselli, Carolina and van der Harst, Pim and Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium and International Stroke Genetics Consortium (ISGC) and AFGen Consortium and NINDS Stroke Genetics Network (SiGN) and UK Young Lacunar DNA Study and EPIC-CVD Consortium and INVENT Consortium and International Genomics of Blood Pressure (iGEN-BP) Consortium and MEGASTROKE Consortium and BioBank Japan Cooperative Hospital Group and COMPASS Consortium and METASTROKE Consortium and EPIC-InterAct Consortium and Neurology Working Group of the CHARGE Consortium and STARNET
Nature genetics, ISSN 1061-4036, 04/2018, Volume 50, Issue 4, pp. 524 - 537
Journal Article
Neurology, ISSN 1526-632X, 09/2014, Volume 83, Issue 18, pp. 1653 - 1660
Journal Article
Management science, ISSN 1526-5501, 01/2007, Volume 53, Issue 1, pp. 16 - 28
Technological developments combine previously distinct technologies that result in converging markets. In converging markets, firms from different industries... 
technology frontier |