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

Search Articles

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (48) 48
life sciences & biomedicine (40) 40
genetics & heredity (35) 35
humans (31) 31
female (25) 25
male (23) 23
child (18) 18
mutation (16) 16
phenotype (15) 15
child, preschool (14) 14
adolescent (12) 12
adult (12) 12
infant (12) 12
intellectual disability - genetics (11) 11
diagnosis (9) 9
intellectual disability (9) 9
genes (8) 8
genetic aspects (8) 8
genetics (8) 8
multidisciplinary sciences (8) 8
research (8) 8
science & technology - other topics (8) 8
genetic disorders (7) 7
genomes (7) 7
genomics (7) 7
genotype & phenotype (7) 7
young adult (7) 7
biological and medical sciences (6) 6
facies (6) 6
genetic screening (6) 6
medical sciences (6) 6
developmental disabilities - genetics (5) 5
haploinsufficiency (5) 5
infant, newborn (5) 5
intellectual disabilities (5) 5
medical genetics (5) 5
phenotypes (5) 5
pregnancy (5) 5
abnormalities, multiple - genetics (4) 4
analysis (4) 4
chromosome deletion (4) 4
dna-binding proteins - genetics (4) 4
gene deletion (4) 4
gene mutations (4) 4
genetic association studies (4) 4
genotype (4) 4
growth disorders - genetics (4) 4
medicine (4) 4
patients (4) 4
pedigree (4) 4
proteins (4) 4
seizures (4) 4
usage (4) 4
alleles (3) 3
autism (3) 3
chd8 (3) 3
children (3) 3
cohort studies (3) 3
comparative genomic hybridization (3) 3
disease genetics (3) 3
dna mutational analysis (3) 3
epilepsy (3) 3
eye (3) 3
face - abnormalities (3) 3
families & family life (3) 3
gene expression (3) 3
genetic testing - methods (3) 3
hand deformities, congenital - genetics (3) 3
health aspects (3) 3
heterozygote (3) 3
hypotonia (3) 3
intellectual disability - complications (3) 3
intellectual disability - diagnosis (3) 3
macrocephaly (3) 3
mental retardation (3) 3
middle aged (3) 3
neonates (3) 3
obesity (3) 3
overgrowth (3) 3
pediatrics (3) 3
rare disease (3) 3
risk factors (3) 3
sequence analysis, dna (3) 3
syndrome (3) 3
transcription factors - genetics (3) 3
abnormalities, multiple - diagnosis (2) 2
abnormalities, multiple - pathology (2) 2
abortion, eugenic (2) 2
abridged index medicus (2) 2
albinism (2) 2
array cgh (2) 2
biochemistry & molecular biology (2) 2
blood cells (2) 2
child development deviations (2) 2
choanal atresia - diagnosis (2) 2
choanal atresia - genetics (2) 2
chromatin remodeling (2) 2
data protection (2) 2
data sharing (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Nature (London), ISSN 0028-0836, 2020, Volume 583, Issue 7814, pp. 96 - 102
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S30 - S30
Journal Article
Journal Article
Journal Article