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1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Ahmed, Munaza and Anjum, Uruj and Barnicoat, Angela and Batstone, Paul and Bevan, A. Paul and Blyth, Moira and Canham, Natalie and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Coates, Andrea and Collinson, Morag N and Cooper, Nicola and Cox, Helen and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and De Vries, Dylan and Deshpande, Charu and Devlin, Gemma and Dobbie, Angus and Donnai, Dian and Ellard, Sian and Elmslie, Frances and Fry, Andrew and Gaunt, Lorraine and Gray, Emma and Harrison, Rachel and Harrison, Victoria and Henderson, Alex and Hewitt, Sarah and Holden, Simon and Holder, Susan and Hollingsworth, Georgina and Homfray, Tessa and Hurst, Jane and Jarvis, Joanna and Kaemba, Beckie and Kazembe, Sandra and Kelsell, Rosemary and Kerr, Bronwyn and Kinning, Esther and Kivuva, Emma and Kumar, Dhavendra and Ajith Kumar, V.K and Lam, Wayne and Langman, Caroline and Marks, Karen and McConnell, Vivienne and McKee, Shane and McMullan, Dominic J and Mehta, Sarju and Middleton, Anna and Montgomery, Tara and Naik, Swati and Nevitt, Louise and Newbury-Ecob, Ruth and Norman, Andrew and O'Shea, Rosie and Park, Soo-Mi and Patel, Chirag and Payne, Stewart and Phipps, Julie and Pilz, Daniela T and Pottinger, Caroline and Pratt, Norman and Prescott, Katrina and Price, Sue and Rahbari, Raheleh and Raymond, Lucy and Roberts, Jonathan and Roberts, Paul and Selby, Ann and Seller, Anneke and Sheridan, Eamonn and Smith, Kath and Smithson, Sarah and Splitt, Miranda and Squires, Miranda and Stewart, Fiona and Suri, Mohnish and Sutton, Vivienne and Swaminathan, Ganesh Jawahar and Turnpenny, Peter and Tysoe, Carolyn and Vogt, Julie and Wellesley, Diana and Wright, Michael and Nellåker, Chris and FitzPatrick, David R and Barrett, Jeffrey C 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
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2. Full Text PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
by Reijnders, Margot R F and Janowski, Robert and Alvi, Mohsan and Self, Jay E and van Essen, Ton J and Vreeburg, Maaike and Rouhl, Rob P W and Stevens, Servi J C and Stegmann, Alexander P A and Schieving, Jolanda and Pfundt, Rolph and van Dijk, Katinke and Smeets, Eric and Stumpel, Connie T R M and Bok, Levinus A and Cobben, Jan Maarten and Engelen, Marc and Mansour, Sahar and Whiteford, Margo and Chandler, Kate E and Douzgou, Sofia and Cooper, Nicola S and Tan, Ene-Choo and Foo, Roger and Lai, Angeline H M and Rankin, Julia and Green, Andrew and Lönnqvist, Tuula and Isohanni, Pirjo and Williams, Shelley and Ruhoy, Ilene and Carvalho, Karen S and Dowling, James J and Lev, Dorit L and Sterbova, Katalin and Lassuthova, Petra and Neupauerová, Jana and Waugh, Jeff L and Keros, Sotirios and Clayton-Smith, Jill and Smithson, Sarah F and Brunner, Han G and van Hoeckel, Ceciel and Anderson, Mel and Clowes, Virginia E and Siu, Victoria Mok and DDD study, The and Selber, Paulo and Leventer, Richard J and Nellaker, Christoffer and Niessing, Dierk and Hunt, David and Baralle, Diana and DDD Study
Journal of medical genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
epilepsy and seizures | neonatal problems | PURA syndrome | hypotonia | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Muscle Hypotonia - genetics | Transcription Factors - chemistry | Genetic Association Studies | Face - abnormalities | Humans | Drosophila Proteins - chemistry | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Eye Abnormalities - genetics | DNA-Binding Proteins - chemistry | Syndrome | Intellectual Disability - genetics | Muscle Hypotonia - etiology | Pregnancy | Female | Structural Homology, Protein | Drosophila Proteins - genetics | Mutation | Infant, Newborn | Genotype | Glycosylation | Genetic disorders | Research | Analysis | Neonates | Phenotypes | Computational neuroscience | Epilepsy | Neurodevelopmental disorders | Feeding | Proteins | Genotype & phenotype | Convulsions & seizures | Startle response | Questionnaires | Photographs | Genotypes | Hypothermia | Index Medicus | 1506
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3. Full Text Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings
by Alvi, Mohsan and Zisserman, Andrew and Nellåker, Christoffer
01/2019, Lecture Notes in Computer Science, ISBN 3030110087, Volume 11129
Ancestral origin dataset | Dataset bias | Face attribute classification
Book Chapter
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4. Full Text Clinical and molecular consequences of disease-associated de novo mutations in SATB2
by Bengani, Hemant and Handley, Mark and Alvi, Mohsan and Ibitoye, Rita and Lees, Melissa and Lynch, Sally Ann and Lam, Wayne and Fannemel, Madeleine and Nordgren, Ann and Malmgren, H and Kvarnung, M and Mehta, Sarju and McKee, Shane and Whiteford, Margo and Stewart, Fiona and Connell, Fiona and Clayton-Smith, Jill and Mansour, Sahar and Mohammed, Shehla and Fryer, Alan and Morton, Jenny and Grozeva, Detelina and Asam, Tara and Moore, David and Sifrim, Alejandro and McRae, Jeremy and Hurles, Matthew E and Firth, Helen V and Raymond, F. Lucy and Kini, Usha and Nellåker, Christoffer and FitzPatrick, David R and DDD Study and UK10K Consortium
Genetics in medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 900 - 908
Absent speech | Intellectual disability | De novo mutation | CUT domain | SATB2 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Line | Haploinsufficiency - genetics | Protein Binding - genetics | Transcription Factors - physiology | Loss of Function Mutation | Genetic Association Studies | Humans | Mutation, Missense | Transcription Factors - genetics | Intellectual Disability - genetics | Whole Genome Sequencing | Intellectual Disability - physiopathology | Matrix Attachment Region Binding Proteins - genetics | HeLa Cells | Cohort Studies | Matrix Attachment Region Binding Proteins - physiology | Proteins | Intellectual disabilities | Mutation | Index Medicus | de novo mutation | absent speech | Original | intellectual disability | Medicin och hälsovetenskap
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5. Full Text Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor and Davies, Sally J and Goldman, Amy and Lehman, Anna and McKee, Shane and Morton, Jenny and Rankin, Julia and Temple, I. Karen and Adam, Shelin and Elliott, Alison M and van Karnebeek, Clara and McRae, Jeremy F and Fitzgerald, Tomas W and Aitken, Stuart and Alvi, Mohsan and Ambridge, Kirsty and Jones, Philip and Ahmed, Munaza and Balasubramanian, Meena and Barnicoat, Angela and Bitner-Glindzicz, Maria and Bourdon, Louise and Bradley, Lisa and Burn, John and Clasper, Susan and Colgiu, Irina and Collins, Amanda and Connell, Fiona and Crow, Yanick and Dabir, Tabib and Davidson, Rosemarie and de Vries, Dylan and Deshpande, Charu and Dixit, Abhijit and Dobbie, Angus and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Flinter, Frances and Foulds, Nicola and Gardiner, Carol and Ghali, Neeti and Gibbons, Richard and Gill, Harinder and Greene, Philip and Gribble, Susan and Holder, Muriel and Hollingsworth, Georgina and Ingram, Stuart and Jenkins, Lucy and Joss, Shelagh and Kerr, Bronwyn and Kini, Usha and Kraus, Alison and Lachlan, Katherine and Lynch, Sally A and Marks, Karen and McConnell, Vivienne and McEntagart, Meriel and McGowan, Ruth and McKay, Kirsten and Middleton, Anna and Mohammed, Shehla and O’Shea, Rosie and Ogilvie, Caroline and Ong, Kai-Ren and Patel, Chirag and Paterson, Joan and Payne, Stewart and Prescott, Katrina and Procter, Annie and Purnell, Hellen and Randall, Josh and Rankin, Julia and Raymond, Lucy and Rice, Debbie and Robert, Leema and Samant, Shalaka and Selby, Ann and Sequeira, Cheryl and Shears, Debbie and Smith, Audrey and Smith, Kath and Splitt, Miranda and Squires, Miranda and Tomkins, Susan and Treacy, Becky and Tysoe, Carolyn and Vasudevan, Pradeep and Vijayarangakannan, Parthiban and Vogt, Julie and Wakeling, Emma and Whiteford, Margo and Wilcox, Sarah and Wilkinson, Emily and Williams, Denise 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
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6. Full Text 360$$^{\circ }$$ Camera Alignment via Segmentation
by Davidson, Benjamin and Alvi, Mohsan S and Henriques, João F
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2020, Volume 12373, pp. 579 - 595
Conference Proceeding
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7. Full Text CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Snijders Blok, C and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, H and Pfundt, R.P and Jansen, S and Kleefstra, T and Brunner, H.G and Fisher, S.E and Campeau, Philippe M and DDD Study and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Index Medicus | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
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8. Full Text De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
by Reijnders, Margot R.F and Miller, Kerry A and Alvi, Mohsan and Goos, Jacqueline A.C and Lees, Melissa M and de Burca, Anna and Henderson, Alex and Kraus, Alison and Mikat, Barbara and de Vries, Bert B.A and Isidor, Bertrand and Kerr, Bronwyn and Marcelis, Carlo and Schluth-Bolard, Caroline and Deshpande, Charu and Ruivenkamp, Claudia A.L and Wieczorek, Dagmar and Baralle, Diana and Blair, Edward M and Engels, Hartmut and Lüdecke, Hermann-Josef and Eason, Jacqueline and Santen, Gijs W.E and Clayton-Smith, Jill and Chandler, Kate and Tatton-Brown, Katrina and Payne, Katelyn and Helbig, Katherine and Radtke, Kelly and Nugent, Kimberly M and Cremer, Kirsten and Strom, Tim M and Bird, Lynne M and Sinnema, Margje and Bitner-Glindzicz, Maria and van Dooren, Marieke F and Alders, Marielle and Koopmans, Marije and Brick, Lauren and Kozenko, Mariya and Harline, Megan L and Klaassens, Merel and Steinraths, Michelle and Cooper, Nicola S and Edery, Patrick and Yap, Patrick and Terhal, Paulien A and van der Spek, Peter J and Lakeman, Phillis and Taylor, Rachel L and Littlejohn, Rebecca O and Pfundt, Rolph and Mercimek-Andrews, Saadet and Stegmann, Alexander P.A and Kant, Sarina G and McLean, Scott and Joss, Shelagh and Swagemakers, Sigrid M.A and Douzgou, Sofia and Wall, Steven A and Küry, Sébastien and Calpena, Eduardo and Koelling, Nils and McGowan, Simon J and Twigg, Stephen R.F and Mathijssen, Irene M.J and Nellaker, Christoffer and Brunner, Han G and Wilkie, Andrew O.M and The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
American journal of human genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1195 - 1203
kinase | Tousled-like | haploinsufficiency | facial averaging | intellectual disability | no | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Line | Translocation, Genetic | Protein Kinases - genetics | Genetic Association Studies | Humans | RNA, Messenger - genetics | Child, Preschool | Infant | Male | Neurodevelopmental Disorders - genetics | RNA, Messenger - metabolism | Young Adult | Base Sequence | Adolescent | Facies | Inheritance Patterns - genetics | Adult | Female | Child | Loss of Function Mutation - genetics | Index Medicus | Report
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9. Full Text CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
by Blok, Lot Snijders and Venselaar, Hanka and Swoboda, Kathryn J and Stumpel, Connie T. R. M and Au, P. Y. Billie and Rodriguez, Diana and van Gassen, Koen L. I and Newbury-Ecob, Ruth and Bierhals, Tatjana and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Thevenon, Julien and Kleefstra, Tjitske and Fisher, Simon E and Campeau, Philippe M and McRae, Jeremy F and Kaplanis, Joanna and Prigmore, Elena and Sifrim, Alejandro and Alvi, Mohsan and Barrett, Daniel M and Jones, Philip and Singh, Tarjinder and Ahmed, Munaza and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Bourdon, Louise and Burn, John and Cilliers, Deirdre and Clowes, Virginia and Cooper, Nicola and Cross, Gareth and Crow, Yanick and Dabir, Tabib and Davidson, Rosemarie and Dean, John and Donnai, Dian and Donnelly, Carina and Douglas, Angela and Everest, Sarah and Fendick, Tina and Fisher, Richard and Gardiner, Carol and Gill, Harinder and Harrison, Rachel and Harrison, Victoria and Hellens, Stephen and Holden, Simon and Holder, Muriel and Ingram, Stuart and Jarvis, Joanna and Johnson, Diana and Jones, Elizabeth and Kerr, Bronwyn and Kini, Usha and Lachlan, Katherine and Lowther, Gordon and Magee, Alex and Maher, Eddy and McConnell, Vivienne and McEntagart, Meriel and McNerlan, Susan and McWilliam, Catherine and Miedzybrodzka, Zosia and Moore, David and Murday, Victoria and Nemeth, Andrea and Norman, Andrew and Ogilvie, Caroline and Ong, Kai-Ren and Parker, Michael J and Patel, Chirag and Payne, Stewart and Pollard, Martin and Prescott, Katrina and Randall, Josh and Rosser, Elisabeth and Samant, Shalaka and Schweiger, Susann and Scurr, Ingrid and Sequeira, Cheryl and Shears, Debbie and Simonic, Ingrid and Squires, Miranda and Stewart, Fiona and Stewart, Helen and Swaminathan, Ganesh Jawahar and Temple, I. Karen and Varghese, Vinod and Vijayarangakannan, Parthiban and Wallwark, Sarah and Weber, Astrid and Wellesley, Diana and Whiteford, Margo and Widaa, Sara and Nellaker, Chris and Wright, Caroline F and FitzPatrick, David R and DDD Study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology
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