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by van der Sluijs, E.P.J and Jansen, S and Vergano, S.A and Adachi-Fukuda, M and Alanay, Yasemin and AlKindy, A and Baban, A and Bayat, A and Beck-Wödl, S and Berry, K and Bijlsma, Emilia and Bok, Levinus and Brouwer, A.F.J and Burgt, Ineke and Campeau, P.M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Y.W.Y and Chung, B.H.Y and Dahan, Karin and De Rademaeker, M and Destrée, Anne and Dudding-Byth, T and Earl, R and Elcioglu, Nursel and Elias, E.R and Fagerberg, C and Gardham, Alice and Gener, B and Gerkes, Erica H and Grasshoff, Ute and Haeringen, Arie and Heitink, K.R and Herkert, Johanna and Hollander, Nicolette and Horn, Denise and Hunt, D and Kant, Sarina and Kato, M and Kayserili, Hülya and Kersseboom, Rogier and Kilic, E and Krajewska-Walasek, Malgorzata and Lammers, K and Laulund, L.W and Lederer, Damien and Lees, Melissa and López-González, V and Maas, Saskia and Mancini, Grazia and Marcelis, Carlo and Martinez, F and Maystadt, Isabelle and McGuire, M and McKee, S and Mehta, S and Metcalfe, Kay and Milunsky, Jeff and Mizuno, S and Moeschler, J.B and Netzer, C and Ockeloen, Charlotte and Oehl-Jaschkowitz, B and Okamoto, N and Olminkhof, S.N.M and Orellana, C and Pasquier, L and Pottinger, C and Riehmer, V and Robertson, Stephen and Roifman, M and Rooryck, Caroline and Ropers, F.G and Rosello, M and Ruivenkamp, Claudia and Sagiroglu, M.S and Sallevelt, Suzanne and Sanchis Calvo, A and Simsek-Kiper, P and Soares, Gabriela and Solaeche, L and Mujgan Sonmez, F and Splitt, M and Steenbeek, D and Stegmann, A.P.A and Stumpel, Connie and Tanabe, S and Uctepe, E and Utine, G.E and Veenstra-Knol, Hermine and Venkateswaran, S and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke and Wheeler, P and Wilson, G.N and Wilson, Louise and Wollnik, B and Kosho, T and Wieczorek, Dagmar and ...
Genetics in medicine, ISSN 1098-3600, 01/2018
Journal Article
by van der Sluijs, Eline and Jansen, Sana and Vergano, Samantha A and Adachi-Fukuda, Miho and Alanay, Yasemin and AlKindy, Adila and Baban, Anwar and Bayat, Allan and Beck-Wödl, Stefanie and Berry, Katherine and Bijlsma, Emilia K and Bok, Levinus A and Brouwer, Alwin F. J and van der Burgt, Ineke and Campeau, Philippe M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Yoyo W. Y and Chung, Brain H. Y and Dahan, Karin and de Rademaeker, Marjan and Destree, Anne and Dudding-Byth, Tracy and Earl, Rachel and Elcioglu, Nursel and Elias, Ellen R and Fagerberg, Christina and Gardham, Alice and Gener, Blanca and Gerkes, Erica H and Grasshoff, Ute and van Haeringen, Arie and Heitink, Karin R and Herkert, Johanna C and den Hollander, Nicolette S and Horn, Denise and Hunt, David and Kant, Sarina G and Kato, Mitsuhiro and Kayserili, H. lya and Kersseboom, Rogier and Kilic, Esra and Krajewska-Walasek, Malgorzata and Lammers, Kylin and Laulund, Lone W and Lederer, Damien and Lees, Melissa and López-González, Vanesa and Maas, Saskia and Mancini, Grazia M. S and Marcelis, Carlo and Martinez, Francisco and Maystadt, Isabelle and McGuire, Marianne and McKee, Shane and Mehta, Sarju and Metcalfe, Kay and Milunsky, Jeff and Mizuno, Seiji and Moeschler, John B and Netzer, Christian and Ockeloen, Charlotte W and Oehl-Jaschkowitz, Barbara and Okamoto, Nobuhiko and Olminkhof, Sharon N. M and Orellana, Carmen and Pasquier, Laurent and Pottinger, Caroline and Riehmer, Vera and Robertson, Stephen P and Roifman, Maian and Rooryck, Caroline and Ropers, Fabienne G and Rosello, Monica and Ruivenkamp, Claudia A. L and Sagiroglu, Mahmut S and Sallevelt, Suzanne C. E. H and Sanchis Calvo, Amparo and Simsek-Kiper, Pelin O and Soares, Gabriela and Solaeche, Lucia and Mujgan Sonmez, Fatma and Splitt, Miranda and Steenbeek, Duco and Stegmann, Alexander P. A and Stumpel, Constance T. R. M and Tanabe, Saori and Uctepe, Eyyup and Utine, G. Eda and Veenstra-Knol, Hermine E and Venkateswaran, Sunita and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke T and Wheeler, Patricia and Wilson, Golder N and Wilson, Louise C and Wollnik, Bernd and Kosho, Tomoki and Wieczorek, Dagmar and ...
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 6, pp. 1295 - 1307
Journal Article
Journal Article
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
by van der Sluijs, Pleuntje J and Jansen, Sana and Vergano, Samantha A and Adachi-Fukuda, Miho and Alanay, Yasemin and AlKindy, Adila and Baban, Anwar and Bayat, Allan and Beck-Woedl, Stefanie and Berry, Katherine and Bijlsma, Emilia K and Bok, Levinus A and Brouwer, Alwin F. J and van der Burgt, Ineke and Campeau, Philippe M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Yoyo W. Y and Chung, Brain H. Y and Dahan, Karin and De Rademaeker, Marjan and Destree, Anne and Dudding-Byth, Tracy and Earl, Rachel and Elcioglu, Nursel and Elias, Ellen R and Fagerberg, Christina and Gardham, Alice and Gener, Blanca and Gerkes, Erica H and Grasshoff, Ute and van Haeringen, Arie and Heitink, Karin R and Herkert, Johanna C and den Hollander, Nicolette S and Horn, Denise and Hunt, David and Kant, Sarina G and Kato, Mitsuhiro and Kayserili, Hulya and Kersseboom, Rogier and Kilic, Esra and Krajewska-Walasek, Malgorzata and Lammers, Kylin and Laulund, Lone W and Lederer, Damien and Lees, Melissa and Lopez-Gonzalez, Vanesa and Maas, Saskia and Mancini, Grazia M. S and Marcelis, Carlo and Martinez, Francisco and Maystadt, Isabelle and McGuire, Marianne and McKee, Shane and Mehta, Sarju and Metcalfe, Kay and Milunsky, Jeff and Mizuno, Seiji and Moeschler, John B and Netzer, Christian and Ockeloen, Charlotte W and Oehl-Jaschkowitz, Barbara and Okamoto, Nobuhiko and Olminkhof, Sharon N. M and Orellana, Carmen and Pasquier, Laurent and Pottinger, Caroline and Riehmer, Vera and Robertson, Stephen P and Roifman, Maian and Rooryck, Caroline and Ropers, Fabienne G and Rosello, Monica and Ruivenkamp, Claudia A. L and Sagiroglu, Mahmut S and Sallevelt, Suzanne C. E. H and Sanchis Calvo, Amparo and Simsek-Kiper, Pelin O and Soares, Gabriela and Solaeche, Lucia and Sonmez, Fatma Mujgan and Splitt, Miranda and Steenbeek, Duco and Stegmann, Alexander P. A and Stumpel, Constance T. R. M and Tanabe, Saori and Uctepe, Eyyup and Utine, G. Eda and Veenstra-Knol, Hermine E and Venkateswaran, Sunita and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke T and Wheeler, Patricia and Wilson, Golder N and Wilson, Louise C and Wollnik, Bernd and Kosho, Tomoki and Wieczorek, Dagmar and ...
Genetics in medicine, ISSN 1098-3600, 06/2019, Volume 21, Issue 6, pp. 1295 - 1307
Journal Article
Nature genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Gene duplication | Mutation | Chromosome 16 | Index Medicus | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article