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1. Full Text GENETIC DISEASES AND MOLECULAR GENETICS
by Athanasiou, Y and Zavros, M and Arsali, M and Papazachariou, L and Demosthenous, P and Savva, I and Voskarides, K and Deltas, C and Pierides, A and Feriozzi, S and Perrin, A and West, M and Nicholls, K and Sunder-Plassmann, G and Torras, J and Neumann, P and Cybulla, M and Cofiell, R and Kukreja, A and Bedard, K and Yan, Y and Mickle, A and Ogawa, M and Bedrosian, C and Faas, S and Meszaros, K and Pruess, L and Gondan, M and Ritz, E and Schaefer, F and Testa, A and Spoto, B and Leonardis, D and Sanguedolce, M. C and Pisano, A and Parlongo, M. R and Tripepi, G and Mallamaci, F and Zoccali, C and Trujillano, D and Bullich, G and Ballarin, J and Torra, R and Estivill, X and Ars, E and Kleber, M. E and Delgado, G and Grammer, T. B and Silbernagel, G and Kraemer, B. K and Maerz, W and Riccio, E and Pisani, A and Abdalla, A. A and Malone, A. F and Winn, M. P and Goodship, T and Cronin, C and Conlon, P. J and Casserly, L. F and Nishio, S and Sakuhara, Y and Matsuoka, N and Yamamoto, J and Nakazawa, D and Nakagakaki, T and Abo, D and Shibazaki, S and Atsumi, T and Mazzinghi, B and Giglio, S and Provenzano, A and Becherucci, F and Sansavini, G and Ravaglia, F and Roperto, R. M and Murer, L and Lasagni, L and Materassi, M and Romagnani, P and Schmidts, M and Christou, S and Cortes, C and McInerney-Leo, A and Kayserili, H and Zankl, A and Peter, S and Duncan, E and Wicking, C and Beales, P. L and Mitchison, H and Magestro, M and Vekeman, F and Nichols, T and Karner, P and Duh, M. S and Srivastava, B and Van Doorn-Khosrovani, S. B. V. W and Zonnenberg, B. A and Musetti, C and ... and On Behalf Of The MAURO Working Group and On Behalf Of The Fabry Outcome Survey Renal Working Group and Uk1ok Consortium
Nephrology, dialysis, transplantation, ISSN 0931-0509, 05/2014, Volume 29, Issue suppl 3, pp. iii339 - iii350
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2. Full Text X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
by Olcese, C and Patel, M.P and Shoemark, A and Kiviluoto, S and Legene, M and Williams, H.J and Vaughan, C.K and Hayward, J and Goldenberg, A and Emes, R.D and Munye, M.M and Dyer, L and Cahill, T and Bevillard, J and Gehrig, C and Guipponi, M and Chantot, S and Duquesnoy, P and Thomas, L and Jeanson, L and Copin, B and Tamalet, A and Thauvin-Robinet, C and Papon, J.F and Garin, A and Pin, I and Vera, G and Aurora, P and Fassad, M.R and Jenkins, L and Boustred, C and Cullup, T and Dixon, M and Onoufriadis, A and Bush, A and Chung, E.M and Antonarakis, S.E and Loebinger, M.R and Wilson, R and Armengot, M and Escudier, E and Hogg, C and Amselem, S and Sun, Z and Bartoloni, L and Blouin, J.L and Mitchison, H.M and Schmidts, M and et al and UK10K Rare Grp and UK10K Rare Group
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequence Deletion | Sperm Motility - genetics | Axonemal Dyneins - metabolism | Humans | Child, Preschool | Male | Kartagener Syndrome - genetics | Phylogeny | Cytoplasm - pathology | Axoneme - pathology | HEK293 Cells | Apoptosis Regulatory Proteins - genetics | Cilia - ultrastructure | Adult | Female | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Child | Infant, Newborn | Disease Models, Animal | Microscopy, Electron, Transmission | Cilia - pathology | Genes, X-Linked - genetics | Molecular Chaperones - genetics | Zebrafish | Protein Folding | Apoptosis Regulatory Proteins - metabolism | Whole Exome Sequencing | Point Mutation | Sequence Alignment | Animals | Pedigree | Kartagener Syndrome - pathology | Adolescent | Genetic Diseases, X-Linked - pathology | HSP90 Heat-Shock Proteins - metabolism | Index Medicus | Life Sciences | Genetics
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3. Full Text Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
by Haworth, S and Shapland, C.Y and Hayward, Caroline and Prins, Bram and Felix, Janine and Medina-Gomez, Carolina and Rivadeneira Ramirez, Fernando and Wang, C and Ahluwalia, TS and Vrijheid, Martine and Guxens Junyent, Mònica and Sunyer, Jordi and Tachmazidou, I and Walter, K and Iotchkova, V and Jackson, Anne and Cleal, L and Huffmann, J and Min, Josine and Sass, L and Timmers, P and Al Turki, S and Anderson, CA and Anney, Richard and Antony, D and Soler Artigas, Maria and Ayub, M and Bala, S and Barrett, JC and Barroso, Inês and Beales, P and Bentham, J and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, D and Bobrow, M and Bochukova, E and Bolton, PF and Bounds, R and Boustred, C and Breen, Gerome and Calissano, M and Carss, K and Charlton, R and Chatterjee, Krishna and Chen, Leslie and Ciampi, Antonio and Cirak, S and Clapham, P and Clement, G and Coates, G and Cocca, M and Collier, David and Cosgrove, C and Cox, Tessa and Craddock, Nick and Crooks, L and Curran, S and Curtis, David and Daly, A and Danecek, P and Day, Ian and Day-Williams, A and Dominiczak, Anna and Down, T and Li, Yingrui and Dunham, David and Durbin, R and Edkins, Ted and Ekong, Rosemary and Ellis, Paul and Evans, David and Farooqi, Sadaf and Fitzpatrick, David and Flicek, P and Floyd, Jamie and Foley, AR and Franklin, Christopher and Futema, M and Gallagher, Louise and Gaunt, Tom and Geihs, M and Geschwind, D and Greenwood, John and Griffin, H and Grozeva, Detelina and Guo, X.S and Guo, Xiuqing and Gurling, Hugh and Hart, Deborah and Henicks, AE and Holmans, Peter and Howie, B and Huang, Jian and Huang, L.R and Hubbard, T and Humphries, Steve and Hurles, Matthew and Hysi, Pirro and Jackson, DK and ... and UK10K Consortium and UK10K consortium
Nature communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 357 - 357
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Skull - metabolism | Gene Frequency | Humans | Middle Aged | RNA, Messenger - genetics | European Continental Ancestry Group | Male | Cephalometry | Genetic Loci | Tumor Suppressor Protein p53 - genetics | Genetic Variation | Gene Expression Regulation, Developmental | Skull - anatomy & histology | Adolescent | Alleles | Aged, 80 and over | Adult | Female | Aged | Genome, Human | Child | Head | p53 Protein | Genetic diversity | Frequency variation | Carriers | Gene frequency | Frequency spectrum | Skull | Adults | Children | Genetic factors | Variation | Age | Index Medicus | Marcadors bioquímics | Genoma humà
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4. Full Text An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
by Wheway, G and Schmidts, M and Mans, D.A and Szymanska, K and Nguyen, T.M and Racher, H and Phelps, I.G and Toedt, G and Kennedy, J and Wunderlich, K.A and Sorusch, N and Abdelhamed, Z.A and Natarajan, S and Herridge, W and Reeuwijk, J. van and Horn, N and Boldt, K and Parry, D.A and Letteboer, S.J.F and Roosing, S and Adams, M and Bell, S.M and Bond, J and Higgins, J and Morrison, E.E and Tomlinson, D.C and Slaats, G.G and Dam, T.J.P. van and Huang, L and Kessler, K and Giessl, A and Logan, C.V and Boyle, E.A and Shendure, J and Anazi, S and Aldahmesh, M and Hazzaa, S. Al and Hegele, R.A and Ober, C and Frosk, P and Mhanni, A.A and Chodirker, B.N and Chudley, A.E and Lamont, R and Bernier, F.P and Beaulieu, C.L and Gordon, P and Pon, R.T and Donahue, C and Barkovich, A.J and Wolf, L and Toomes, C and Thiel, C.T and Boycott, K.M and McKibbin, M and Inglehearn, C.F and Stewart, F and Omran, H and Huynen, M.A and Sergouniotis, P.I and Alkuraya, F.S and Parboosingh, J.S and Innes, A.M and Willoughby, C.E and Giles, R.H and Webster, A.R and Ueffing, M and Blacque, O and Gleeson, J.G and Wolfrum, U and Beales, P.L and Gibson, T and Doherty, D and Mitchison, H.M and Roepman, R and Johnson, C.A and Univ Washington Ctr Mendelian Geno and UK10K Consortium and University of Washington Center for Mendelian Genomics
Nature cell biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
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5. Full Text Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
by Onoufriadis, Alexandros and Paff, Tamara and Antony, Dinu and Shoemark, Amelia and Micha, Dimitra and Kuyt, Bertus and Schmidts, Miriam and Petridi, Stavroula and Dankert-Roelse, Jeanette E and Haarman, Eric G and Daniels, Johannes M.A and Emes, Richard D and Wilson, Robert and Hogg, Claire and Scambler, Peter J and Chung, Eddie M.K and Pals, Gerard and Mitchison, Hannah M and UK10K
American journal of human genetics, ISSN 0002-9297, 01/2013, Volume 92, Issue 1, pp. 88 - 98
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | RNA Splice Sites | Microtubule-Associated Proteins - genetics | Pedigree | Base Sequence | Humans | Molecular Sequence Data | Female | Male | Kartagener Syndrome - genetics | Mutation | Dyneins | Axoneme - genetics | Motility | Gene mutations | Cilia and ciliary motion | Physiological aspects | Causes of | Genetic aspects | Research | Epithelium | Movement disorders | Cells | Birth defects | Dynein | Medical genetics | Proteins | Genetic disorders | Genes | Algae | Index Medicus | Heart | Transcription | Sperm | Respiratory tract | Axonemes | Fertility | Infertility | Respiratory tract diseases | Flagella | Testes | Dating | primary ciliary dyskinesia | Cilia | Report
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6. Full Text The UK10K project identifies rare variants in health and disease
by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, Davey and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature (London), ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetics, Population | Receptors, LDL - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Disease - genetics | Health | Genomics | Humans | Molecular Sequence Annotation | Male | United Kingdom | Sequence Analysis, DNA | Genome, Human - genetics | Adiponectin - blood | Exome - genetics | Reference Standards | Genetics, Medical | Alleles | Triglycerides - blood | Female | Lipid Metabolism - genetics | Genetic Variation - genetics | Cohort Studies | Genetic research | Research | Genetic variation | Identification and classification | Health aspects | Population genetics | Proteins | Studies | Haplotypes | Obesity | Genealogy | Disease | Quality | Population | Genomes | Mutation | Index Medicus
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7. Full Text Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis
by Yang, Y.J and Klaauw, Agatha and Zhu, L.R and Cacciottolo, T.M and He, Y.L and Stadler, L.K.J and UK10K Consortium
Nature communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 1718 - 1718
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Body Weight | Humans | Leptin - metabolism | Homeostasis | Male | Mutation, Missense | Obesity - genetics | Nuclear Receptor Coactivator 1 - metabolism | Genetic Variation | Nuclear Receptor Coactivator 1 - genetics | Gene Deletion | HEK293 Cells | Neurons - metabolism | Mice, Transgenic | Gene Knock-In Techniques | Obesity - metabolism | Phenotype | Animals | Hypothalamus - metabolism | Membrane Potentials | Alleles | Cell Line, Tumor | Heterozygote | Mice | Crosses, Genetic | Obesity | Transcription | Neurons | Body weight | Stat3 protein | Weight loss | Proopiomelanocortin | Body weight loss | Hypothalamus | High fat diet | Depolarization | Energy balance | Clonal deletion | Food intake | Rodents | Steroid receptor coactivator 1 | Receptor mechanisms | Steroids | Food | Index Medicus
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