Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (89) 89
Newspaper Article (11) 11
Patent (5) 5
Publication (2) 2
Book / eBook (1) 1
Book Chapter (1) 1
Dissertation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (60) 60
life sciences & biomedicine (51) 51
humans (45) 45
female (35) 35
genetics & heredity (35) 35
male (35) 35
mutation (30) 30
adolescent (18) 18
child (17) 17
genetics (16) 16
phenotype (16) 16
biological and medical sciences (15) 15
genetic aspects (15) 15
child, preschool (14) 14
syndrome (13) 13
adult (12) 12
medical sciences (11) 11
patients (11) 11
infant (10) 10
medical genetics (10) 10
research (9) 9
abnormalities, multiple - genetics (8) 8
chemistry (8) 8
fundamental and applied biological sciences. psychology (8) 8
gene mutations (8) 8
genes (8) 8
mutation - genetics (8) 8
proteins (8) 8
young adult (8) 8
genomics (7) 7
genotype & phenotype (7) 7
magnetic resonance imaging (7) 7
microbiology (7) 7
multidisciplinary sciences (7) 7
science & technology - other topics (7) 7
analysis (6) 6
clinical neurology (6) 6
comparative genomic hybridization (6) 6
developmental disabilities - genetics (6) 6
intellectual disability - genetics (6) 6
methylation (6) 6
middle aged (6) 6
mutation, missense (6) 6
neurology (6) 6
neurosciences & neurology (6) 6
pedigree (6) 6
seizures (6) 6
animals (5) 5
beer (5) 5
biochemistry (5) 5
biochemistry & molecular biology (5) 5
children (5) 5
chromosome deletion (5) 5
compositions or test papers therefor (5) 5
condition-responsive control in microbiological orenzymological processes (5) 5
disorders (5) 5
enzymology (5) 5
general tagging of cross-sectional technologies spanning over several sections of the ipc (5) 5
general tagging of new technological developments (5) 5
genetic association studies (5) 5
genomes (5) 5
infant, newborn (5) 5
intellectual disability (5) 5
investigating or analysing materials by determining theirchemical or physical properties (5) 5
laboratories (5) 5
life sciences (5) 5
measuring (5) 5
measuring or testing processes involving enzymes, nucleicacids or microorganisms (5) 5
medical research (5) 5
metallurgy (5) 5
mice (5) 5
mutation or genetic engineering (5) 5
neurodegeneration (5) 5
neurodevelopmental disorders (5) 5
physics (5) 5
processes of preparing such compositions (5) 5
risk factors (5) 5
spirits (5) 5
technical subjects covered by former uspc (5) 5
technical subjects covered by former uspc cross-reference art collections [xracs] and digests (5) 5
technical subjects covered by former uspc cross-reference artcollections [xracs] and digests (5) 5
testing (5) 5
vinegar (5) 5
wine (5) 5
abnormalities, multiple - diagnosis (4) 4
abnormalities, multiple - pathology (4) 4
age (4) 4
autism (4) 4
care and treatment (4) 4
development and progression (4) 4
diagnosis (4) 4
dna mutational analysis (4) 4
exome (4) 4
facies (4) 4
gene expression (4) 4
genetic disorders (4) 4
health aspects (4) 4
heart diseases (4) 4
heterozygote (4) 4
hospitals (4) 4
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Congenital Titinopathy: Comprehensive characterization and pathogenic insights
by Oates, E.C and Jones, K.J and Donkervoort, S and Charlton, A and Brammah, S and Smith, J.E and Ware, J.S and Yau, K.S and Swanson, L.C and Whiffin, N and Peduto, A.J and Bournazos, A and Waddell, L.B and Farrar, M.A and Sampaio, H.A and Teoh, H.L and Lamont, P.J and Mowat, D and Fitzsimons, R.B and Corbett, A.J and Ryan, M.M and O'Grady, G.L and Sandaradura, S.A and Ghaoui, R and Joshi, H and Marshall, J.L and Nolan, M.A and Kaur, S and Punetha, J and Topf, A and Harris, E and Bakshi, M and Genetti, C.A and Marttila, M and Werlauff, U and Streichenberger, N and Pestronk, A and Mazanti, I and Pinner, J.R and Vuillerot, C and Grosmann, C and Camacho, A and Mohassel, P and Leach, M.E and Foley, A.R and Bharucha-Goebel, D and Collins, J and Connolly, A.M and Gilbreath, H.R and Iannaccone, S.T and Castro, D and Cummings, B.B and Webster, R.I and Lazaro, L and Vissing, J and Coppens, S and Deconinck, N and Luk, H.M and Thomas, N.H and Foulds, N.C and Illingworth, M.A and Ellard, S and McLean, C.A and Phadke, R and Ravenscroft, G and Witting, N and Hackman, P and Richard, I and Cooper, S.T and Kamsteeg, E.J and Hoffman, E.P and Bushby, K and Straub, V and Udd, B and Ferreiro, A and North, K.N and Clarke, N.F and Lek, M and Beggs, A.H and Bonnemann, C.G and MacArthur, D.G and Granzier, H and Davis, M.R and Laing, N.G
Annals of neurology, ISSN 0364-5134, 2018, Volume 83, Issue 6, pp. 1105 - 1124
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscle Proteins - genetics | Phenotype | Cardiomyopathy, Dilated - congenital | Humans | Connectin - genetics | Female | Male | Muscle, Skeletal - pathology | Mutation - genetics | Protein Isoforms - genetics | Heart | Impact prediction | Connectin | Transcription | Creatine kinase | Identification methods | Cardiomyopathy | Pathogenesis | Exons | Creatine | Proteins | Mitochondria | Hypotonia | Scoliosis | Medical imaging | Congenital diseases | Fetuses | Abnormalities | Muscles | Disease control | Patients | Skeletal muscle | Cores | Musculoskeletal system | Magnetic resonance imaging | Dilated cardiomyopathy | Isoforms | Ophthalmoplegia | Diagnostic systems | Mutation | Biotechnology | Biochemistry, Molecular Biology | Cardiomyopathy, Dilated | Life Sciences | Muscle Proteins | Protein Isoforms | Genetics | Muscle, Skeletal | Molecular biology | Human genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Lehman, Anna and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and ... and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text P37 Hypermobile ehlers-danlos syndrome explosion in the UK
by Jenabi, Fatemeh and Leahy, Alice and Foulds, Nicola and Graaf, Hans de
Archives of disease in childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A170
Pediatrics | Marfan's syndrome | Ehlers-Danlos syndrome | Arthralgia | Rheumatology | Childrens health | Management | Patients | Pain | Collagen | Skin | Anxiety | Diagnosis
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Evidence for 28 genetic disorders discovered by combining healthcare and research data
by Kaplanis, Joanna and Samocha, Kaitlin E and Wiel, Laurens and Zhang, Zhancheng and Arvai, Kevin J and Eberhardt, Ruth Y and Gallone, Giuseppe and Lelieveld, Stefan H and Martin, Hilary C and McRae, Jeremy F and Short, Patrick J and Torene, Rebecca I and de Boer, Elke and Danecek, Petr and Gardner, Eugene J and Huang, Ni and Lord, Jenny and Martincorena, Inigo and Pfundt, Rolph and Reijnders, Margot R. F and Yeung, Alison and Yntema, Helger G and Vissers, Lisenka E. L. M and Juusola, Jane and Wright, Caroline F and Brunner, Han G and Firth, Helen V and FitzPatrick, David R and Barrett, Jeffrey C and Hurles, Matthew E and Gilissen, Christian and Retterer, Kyle and Deciphering Dev Disorders and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 10/2020, Volume 586, Issue 7831, pp. 757 - 3
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Discovery and exploration | Medical research | Usage | Genetic disorders | Analysis | Medicine, Experimental | Medical statistics | Evidence-based medicine | Proteins | Health care | Genotype & phenotype | Genes | Genomics | Disorders | Gender differences | Diagnostic systems | Mutation | Statistical tests | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Diagnosis of pyridoxine‐dependent epilepsy in an adult presenting with recurrent status epilepticus
by Osman, Chinar and Foulds, Nicola and Hunt, David and Jade Edwards, Casidhe and Prevett, Martin
Epilepsia (Copenhagen), ISSN 0013-9580, 01/2020, Volume 61, Issue 1, pp. e1 - e6
genetic | pyridoxine | metabolic | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuroimaging | Neonates | Inborn errors of metabolism | Epilepsy | EEG | Cognition | Pyridoxine | Antiepileptic agents | Hemispheric laterality | Convulsions & seizures | Magnetic resonance imaging | Children | Diagnosis | Vitamin B6 | Metabolic disorders | Seizures | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Dimensional personality traits and alcohol treatment outcome: a systematic review and meta‐analysis
by Foulds, James and Newton‐Howes, Giles and Guy, Nicola H and Boden, Joseph M and Mulder, Roger T
Addiction (Abingdon, England), ISSN 0965-2140, 08/2017, Volume 112, Issue 8, pp. 1345 - 1357
temperament and character inventory | meta‐analysis | personality | systematic review | treatment outcome | Alcoholism | meta-analysis | Life Sciences & Biomedicine | Substance Abuse | Psychiatry | Science & Technology | Treatment Outcome | Personality | Personality Inventory - statistics & numerical data | Alcoholism - psychology | Alcoholism - therapy | Humans | Medical research | Care and treatment | Patient outcomes | Medicine, Experimental | Substance abuse | Drinking of alcoholic beverages | Relapse | Clinical trials | Systematic review | Retention | Evidence-based medicine | Clinical outcomes | Alcohol use | Alcohols | Confidence intervals | Personality tests | Personality traits | Questionnaires | Reinforcement | Longitudinal studies | Novelty | Consumption | Alcohol related disorders | Clinical research | Patients | Temperament | Meta-analysis | Missing data | Correlation analysis | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and