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1. Full Text Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae
by Conlan, Sean and Thomas, Pamela J and Deming, Clayton and Park, Morgan and Lau, Anna F and Dekker, John P and Snitkin, Evan S and Clark, Tyson A and Luong, Khai and Song, Yi and Tsai, Yu-Chih and Boitano, Matthew and Dayal, Jyoti and Brooks, Shelise Y and Schmidt, Brian and Young, Alice C and Thomas, James W and Bouffard, Gerard G and Blakesley, Robert W and Mullikin, James C and Korlach, Jonas and Henderson, David K and Frank, Karen M and Palmore, Tara N and Segre, Julia A and NISC Comparative Sequencing and NISC Comparative Sequencing Program
Science translational medicine, ISSN 1946-6234, 09/2014, Volume 6, Issue 254, pp. 254ra126 - 254ra126
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Enterobacteriaceae - enzymology | United States | Humans | Cross Infection | Enterobacteriaceae - genetics | Hospitals, Public | beta-Lactamases - biosynthesis | National Institutes of Health (U.S.) | Plasmids | Bacterial Proteins - biosynthesis | Population Surveillance | Real-Time Polymerase Chain Reaction | Enterobacteriaceae - classification | Index Medicus
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2. Full Text Molecular Insights into Antimicrobial Resistance Traits of Multidrug Resistant Enteric Pathogens isolated from India
by Kumar, Pawan and Bag, Satyabrata and Ghosh, Tarini Shankar and Dey, Prasanta and Dayal, Mayanka and Saha, Bipasa and Verma, Jyoti and Pant, Archana and Saxena, Shruti and Desigamani, Anbumani and Rana, Preety and Kumar, Dhirendra and Sharma, Naresh C and Hanpude, Pranita and Maiti, Tushar K and Mukhopadhyay, Asish K and Bhadra, Rupak K and Nair, G. Balakrish and Ramamurthy, Thandavarayan and Das, Bhabatosh
Scientific reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 14468 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Drug Resistance, Multiple - genetics | Bacterial Infections - drug therapy | Humans | Gastrointestinal Microbiome - genetics | Bacteria - genetics | India | Whole Genome Sequencing | Microbial Sensitivity Tests | Gram-Negative Bacteria - drug effects | Phenotype | Gastrointestinal Microbiome - drug effects | Anti-Bacterial Agents - pharmacology | Drug Resistance, Bacterial - drug effects | Drug Resistance, Multiple, Bacterial - genetics | Pathogens | Antibiotics | Gene transfer | Multidrug resistance | Bacteria | Antimicrobial agents | Genomes | Antimicrobial resistance | Gram-negative bacteria | Drug resistance | Index Medicus
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3. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Dis Network and Undiagnosed Diseases Network
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
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4. Full Text Strategic vision for improving human health at The Forefront of Genomics
by Green, Eric D and Gunter, Chris and Biesecker, Leslie G and Di Francesco, Valentina and Easter, Carla L and Feingold, Elise A and Felsenfeld, Adam L and Kaufman, David J and Ostrander, Elaine A and Pavan, William J and Phillippy, Adam M and Wise, Anastasia L and Dayal, Jyoti Gupta and Kish, Britny J and Mandich, Allison and Wellington, Christopher R and Wetterstrand, Kris A and Bates, Sarah A and Leja, Darryl and Vasquez, Susan and Gahl, William A and Graham, Bettie J and Kastner, Daniel L and Liu, Paul and Rodriguez, Laura Lyman and Solomon, Benjamin D and Bonham, Vence L and Brody, Lawrence C and Hutter, Carolyn M and Manolio, Teri A
Nature (London), ISSN 0028-0836, 10/2020, Volume 586, Issue 7831, pp. 683 - 692
Genetic research | Research | Human genome | Health aspects | Genomics | Medical research | Biomedical research | Strategic planning | Values | Genomes | Human Genome Project | Artificial intelligence | Public health | Index Medicus
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5. Full Text The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
by Ramoni, Rachel B and Mulvihill, John J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan H and ... and Undiagnosed Diseases Network and Undiag Dis Network
American journal of human genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
rare diseases | diagnosis | National Institutes of Health | high-throughput nucleotide sequencing | phenotyping | cooperative behavior | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | National Institutes of Health (U.S.) | Rare Diseases - genetics | Metabolomics | Phenotype | United States | Humans | Information Dissemination - methods | Rare Diseases - diagnosis | Genotype | Genotyping Techniques | Sequence Analysis, DNA | Technology application | Diagnosis | Rare diseases | Usage | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Social networks | Government agencies | Disease management | Medical diagnosis | Precision | Best practice | Index Medicus
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6. Full Text Prevalence of psychosocial morbidity in children with type 1 diabetes mellitus: a survey from Northern India
by Agrawal, Jyoti and Kumar, Rakesh and Malhi, Prahbhjot and Dayal, Devi
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2016, Volume 29, Issue 8, pp. 893 - 899
type 1 diabetes mellitus | psychosocial morbidity | childhood psychopathological measurement schedule | children | Pediatrics | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Depression - epidemiology | Prognosis | Cross-Sectional Studies | Follow-Up Studies | Humans | Anxiety - psychology | Child, Preschool | Male | Diabetes Mellitus, Type 1 - complications | Morbidity | Depression - etiology | Psychiatric Status Rating Scales | Adolescent | Anxiety - epidemiology | Depression - psychology | Female | Social Adjustment | Child | Anxiety - etiology | Diabetes Mellitus, Type 1 - psychology | Adaptation, Psychological | Psychological aspects | Diagnosis | Type 1 diabetes | Child psychopathology | Distribution | Index Medicus
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7. Full Text MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
by Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Adams, Christopher J and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan H and Lee, Hane and Lee, Paul R and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and Liebendorfer, Adam P and ... and UDN
American journal of human genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation | Index Medicus
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8. Full Text Model organisms facilitate rare disease diagnosis and therapeutic research
by Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Posey, Jennifer E and Westerfield, Monte and Postlethwait, John and Hieter, Philip and Boycott, Kym M and Campeau, Philippe M and Bellen, Hugo J and Adams, David R and Hanchard, Neil A and Papp, Jeanette C and Alejandro, Mercedes E and Handley, Lori H and Parker, Neil H and Allard, Patrick and Herzog, Matthew R and Pena, Loren D. M and Ashley, Euan A and Holm, Ingrid A and Phillips, John A and Azamian, Mahshid S and Howerton, Ellen M and Bacino, Carlos A and Jacob, Howard J and Postlethwait, John H and Balasubramanyam, Ashok and Jain, Mahim and Potocki, Lorraine and Barseghyan, Hayk and Jiang, Yong-Hui and Pusey, Barbara N and Beggs, Alan H and Johnston, Jean M and Ramoni, Rachel B and Jones, Angela L and Robertson, Amy K and Bernstein, Jonathan A and Koeller, David M and Rodan, Lance H and Bican, Anna and Kohane, Isaac S and Rosenfeld, Jill A and Bick, David P and Kohler, Jennefer N and Samson, Susan L and Birch, Camille L and Krasnewich, Donna M and Schoch, Kelly and Boone, Braden E and Krieg, Elizabeth L and Schroeder, Molly C and Bostwick, Bret L and Krier, Joel B and Scott, Daryl A and Briere, Lauren C and Kyle, Jennifer E and Sharma, Prashant and Brown, Donna M and Lalani, Seema R and Shashi, Vandana and Brush, Matthew and Lau, C. Christopher and Silverman, Edwin K and Burke, Elizabeth A and Lazar, Jozef and Sinsheimer, Janet S and Burrage, Lindsay C and Lee, Brendan H and Soldatos, Ariane G and Chen, Shan and Lee, Hane and Spillmann, Rebecca C and Clark, Gary D and Levy, Shawn E and Splinter, Kimberly and Cogan, Joy D and Lewis, Richard A and Stoler, Joan M and Cooper, Cynthia M and Lincoln, Sharyn A and Stong, Nicholas and Craigen, William J and Lipson, Allen and Strong, Kimberly A and Davids, Mariska and Loo, Sandra K and Sullivan, Jennifer A and Dayal, Jyoti G and Loscalzo, Joseph and Sweetser, David A and Dell'Angelica, Esteban C and Maas, Richard L and Tifft, Cynthia J and Dhar, Shweta U and Macnamara, Ellen F and Toro, Camilo and Dillon, Ani and MacRae, Calum A and ... and UDN and Members of the Undiagnosed Diseases Network (UDN)
Genetics (Austin), ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Human | Diagnostics | Drosophila | Whole-exome sequencing | Zebrafish | Genetic diseases | Functional genomics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Genetic Diseases, Inborn - therapy | Genetic Testing - methods | Zebrafish - genetics | Exome | Animals | Rare Diseases - therapy | Genetic Diseases, Inborn - diagnosis | Disease Models, Animal | Drosophila - genetics | Biomedical research | Yeast | Disease | Pathogenesis | Genomics | Genes | Research guides | Genomes | Organisms | Hybridization | Medical diagnosis | Cell cycle | Genetics | Physiology | Diagnosis | Medical research | Genetic disorders | Gene families | Organs | Genetic diversity | Diseases | Studies | Researchers | Insects | Collaboration | Diagnostic systems | Index Medicus | genetic diseases | diagnostics | functional genomics | Review | zebrafish | human | whole-exome sequencing
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