X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (296) 296
Newspaper Article (197) 197
Publication (33) 33
Patent (17) 17
Book Chapter (14) 14
Book Review (11) 11
Book / eBook (10) 10
Trade Publication Article (7) 7
Magazine Article (6) 6
Conference Proceeding (3) 3
Dissertation (2) 2
Video Recording (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (116) 116
index medicus (115) 115
female (75) 75
male (53) 53
adult (42) 42
mutation (34) 34
middle aged (32) 32
animals (30) 30
analysis (22) 22
research (22) 22
risk factors (22) 22
aged (21) 21
cancer (21) 21
genetics (20) 20
genetics & heredity (20) 20
medicine (20) 20
mice (19) 19
article (18) 18
infectious diseases (18) 18
child (17) 17
genetic aspects (17) 17
medical and health sciences (17) 17
medicin och hälsovetenskap (17) 17
oncology (17) 17
cohort studies (16) 16
disease (16) 16
adolescent (15) 15
clinical neurology (15) 15
genotype (15) 15
studies (15) 15
health aspects (14) 14
microbiology (14) 14
mortality (14) 14
neurosciences (14) 14
biochemistry & molecular biology (13) 13
breast cancer (13) 13
epidemiology (13) 13
prevalence (13) 13
risk (13) 13
young adult (13) 13
breast neoplasms - genetics (12) 12
care and treatment (12) 12
heterozygote (12) 12
hospitals (12) 12
patients (12) 12
physiological aspects (12) 12
hiv (11) 11
immunology (11) 11
performing operations (11) 11
transporting (11) 11
child, preschool (10) 10
children (10) 10
correction of typographical errors (10) 10
education (10) 10
electricity (10) 10
gene expression (10) 10
gene mutations (10) 10
i.e. mechanisms printing otherwise than from a forme (10) 10
lining machines (10) 10
pharmacology & pharmacy (10) 10
phenotype (10) 10
polymorphism, single nucleotide (10) 10
population (10) 10
printing (10) 10
selective printing mechanisms (10) 10
skin and connective tissue diseases (10) 10
stamps (10) 10
typewriters (10) 10
united kingdom (10) 10
aged, 80 and over (9) 9
brca1 protein - genetics (9) 9
cancer and oncology (9) 9
cancer och onkologi (9) 9
clinical trials (9) 9
genetic predisposition to disease (9) 9
multidisciplinary sciences (9) 9
prevention (9) 9
treatment outcome (9) 9
usage (9) 9
brca1 (8) 8
casings or constructional details of electric apparatus (8) 8
cyanobacteria (8) 8
electric techniques not otherwise provided for (8) 8
endocrine system diseases (8) 8
europe (8) 8
genomes (8) 8
history (8) 8
infant (8) 8
manufacture of assemblages of electrical components (8) 8
original (8) 8
original research (8) 8
ovarian-cancer (8) 8
pediatrics (8) 8
printed circuits (8) 8
research article (8) 8
time factors (8) 8
women (8) 8
age (7) 7
antiretroviral therapy (7) 7
biotechnology & applied microbiology (7) 7
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Robarts - Stacks (7) 7
UofT at Mississauga - Stacks (3) 3
St. Michael's College (John M. Kelly) - 2nd Floor (2) 2
UofT at Scarborough - Stacks (2) 2
Collection Dvlpm't (Acquisitions) - Vendor file (1) 1
Media Commons - Audio Visual (1) 1
Online Resources - Online (1) 1
Trinity College (John W Graham) - Stacks (1) 1
UofT Schools - Stacks (1) 1
Victoria University E.J. Pratt - Stacks (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


eBook
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, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | 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 | 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
Journal of Clinical Investigation, ISSN 0021-9738, 01/2018, Volume 128, Issue 1, pp. 26 - 35
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 900 - 908
Journal Article
The Heythrop Journal, ISSN 0018-1196, 01/2018, Volume 59, Issue 1, pp. 77 - 83
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2018, Volume 128, Issue 1, p. 26
Journal Article
The Lancet Oncology, ISSN 1470-2045, 08/2017, Volume 18, Issue 8, pp. 1104 - 1115
Journal Article
American Journal of Physiology - Heart and Circulatory Physiology, ISSN 0363-6135, 03/2013, Volume 304, Issue 6, pp. 786 - 795
Journal Article