Articles

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

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (69) 69
humans (62) 62
life sciences & biomedicine (59) 59
female (46) 46
genetics & heredity (40) 40
male (34) 34
mutation (30) 30
phenotype (23) 23
child (22) 22
child, preschool (20) 20
genetics (19) 19
biological and medical sciences (17) 17
medical sciences (17) 17
adolescent (16) 16
genetic aspects (16) 16
adult (15) 15
infant (12) 12
medical genetics (12) 12
young adult (11) 11
multidisciplinary sciences (10) 10
research (10) 10
science & technology - other topics (10) 10
genomes (9) 9
intellectual disability (9) 9
risk factors (9) 9
analysis (8) 8
genomics (8) 8
genotype & phenotype (8) 8
health aspects (8) 8
intellectual disabilities (8) 8
medicine (8) 8
middle aged (8) 8
pedigree (8) 8
phenotypes (8) 8
animals (7) 7
biochemistry & molecular biology (7) 7
fundamental and applied biological sciences. psychology (7) 7
genetics of eukaryotes. biological and molecular evolution (7) 7
mutation, missense (7) 7
physiological aspects (7) 7
syndrome (7) 7
amino acid sequence (6) 6
dna mutational analysis (6) 6
gene expression (6) 6
genes (6) 6
genetic disorders (6) 6
karyotyping (6) 6
medical research (6) 6
mice (6) 6
pregnancy (6) 6
proteins (6) 6
usage (6) 6
abnormalities, multiple - genetics (5) 5
cataract - genetics (5) 5
consanguinity (5) 5
cytogenetics (5) 5
deoxyribonucleic acid--dna (5) 5
developmental disabilities - genetics (5) 5
facies (5) 5
gene deletion (5) 5
gene mutations (5) 5
intellectual disability - genetics (5) 5
life sciences (5) 5
medicine, research & experimental (5) 5
molecular sequence data (5) 5
neurodevelopmental disorders (5) 5
proteins - genetics (5) 5
research & experimental medicine (5) 5
sequence analysis, dna (5) 5
transcription (5) 5
abridged index medicus (4) 4
agenesis of corpus callosum - genetics (4) 4
cancer (4) 4
chromosome aberrations (4) 4
chromosome deletion (4) 4
clinical neurology (4) 4
cohort studies (4) 4
exome (4) 4
exome - genetics (4) 4
general & internal medicine (4) 4
general aspects. genetic counseling (4) 4
genetic screening (4) 4
genetic testing (4) 4
haploinsufficiency (4) 4
human genetics (4) 4
in situ hybridization, fluorescence (4) 4
infant, newborn (4) 4
medicin och hälsovetenskap (4) 4
medicine, general & internal (4) 4
molecular and cellular biology (4) 4
mutation - genetics (4) 4
neurosciences & neurology (4) 4
patients (4) 4
prevalence (4) 4
seizures (4) 4
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (3) 3
abnormalities (3) 3
abnormalities, multiple (3) 3
adenosine triphosphatases - genetics (3) 3
adult and adolescent clinical studies (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita
by Tummala, Hemanth and Walne, Amanda and Collopy, Laura and Cardoso, Shirleny and De La Fuente, Josu and Lawson, Sarah and Powell, James and Cooper, Nicola and Foster, Alison and Mohammed, Shehla and Plagnol, Vincent and Vulliamy, Thomas and Dokal, Inderjeet
The Journal of clinical investigation, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, pp. 2151 - 2160
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Sequence Deletion | Exoribonucleases - genetics | Pakistan - ethnology | Frameshift Mutation | Exoribonucleases - deficiency | Humans | Child, Preschool | Male | Mutation, Missense | Telomere Homeostasis - genetics | Dyskeratosis Congenita - genetics | Female | Child | Exoribonucleases - physiology | Protein Structure, Tertiary | Down-Regulation | RNA, Small Interfering - pharmacology | Cells, Cultured | Models, Molecular | Exome - genetics | Phenotype | Pedigree | Alleles | Protein Conformation | Consanguinity | DNA Damage | Mutation | Protein Isoforms - genetics | Telomeres | Epithelial cells | Abnormalities | Physiological aspects | Genetic aspects | Ribonuclease | Research | Risk factors | Consent | Families & family life | Software | Genomes | Gene expression | Telomerase | Deoxyribonucleic acid--DNA | Cancer | Index Medicus | Abridged Index Medicus | Hematology | Aging | Genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Effect of early tranexamic acid administration on mortality, hysterectomy, and other morbidities in women with post-partum haemorrhage (WOMAN): an international, randomised, double-blind, placebo-controlled trial
by Shakur, Haleema and Roberts, Ian and Fawole, Bukola and Chaudhri, Rizwana and El-Sheikh, Mohamed and Akintan, Adesina and Qureshi, Zahida and Kidanto, Hussein and Vwalika, Bellington and Abdulkadir, Abdulfetah and Etuk, Saturday and Noor, Shehla and Asonganyi, Etienne and Alfirevic, Zarko and Beaumont, Danielle and Ronsmans, Carine and Arulkumaran, Sabaratnam and Grant, Adrian and Afsana, Kaosar and Gülmezoglu, Metin and Hunt, Beverley and Olayemi, Oladapo and Chalmers, Iain and Lumbiganon, Pisake and Piaggio, Gilda and Brady, Tony and Elbourne, Diana and Balogun, Eni and Pepple, Tracey and Prowse, Danielle and Quashi, Nigel and Barneston, Lin and Barrow, Collette and Cook, Lisa and Frimley, Lauren and Gilbert, Daniel and Gilliam, Catherine and Jackson, Rob and Kawahara, Taemi and Miah, Hakim and Kostrov, Sergey and Ramos, Maria and Edwards, Phil and Godec, Tom and Huque, Sumaya and Okunade, Olujide and Adetayo, Olusade and Kayani, Aasia and Javaid, Kiran and Biryabarema, Chrstine and Tchounzou, Robert and Regmi, Mohan and Dallaku, Kastriot and Sahani, Mateus and Akhter, Sayeba and Meda, Nicolas and Dah, Anthony Kwame and Odekunle, Olufemi and Monehin, Oluwabusola and Ojo, Austin and Akinbinu, Grace and Offiah, Ifeoma and Akpan, Ubong and Udofia, Uduak and Okon, Useneno and Omoronyia, Ezukwa and James, Okpe and Bello, Nike and Adeyemi, Blessed and Aimakhu, Chris and Akinsanya, Olufemi and Adeleye, Bamidele and Adeyemi, Oluwaseun and Oluwatosin, Kayode and Aboyeji, Abiodun and Adeniran, Abiodun and Adewale, Adebayo and Olaomo, Noah and Omo-Aghoja, Lawrence and Okpako, Emmanuel and Oyeye, Lucky and Alu, Francis and Ogudu, John and Ladan, Ezekiel and Habib, Ibrahim and Okusanya, Babasola and Onafowokan, Olatunde and Isah, David and Aye, Abalaka and Okogbo, Felix and Aigere, Egbaname and Ogbiti, Mark and Onile, Temitope and Salau, Olaide and Amode, Yinka and Shoretire, Kamil and Owodunni, Adebola and Ologunde, Kehinde and Ayinde, Akintunde and Alao, Moses and ... and WOMAN Trial Collaborators and Natl Coordinators and Nigeria Coordinating Team and Pakistan Coordinating Team and Trial Coordinating Team and Protocol Comm and Steering Comm
The Lancet (British edition), ISSN 0140-6736, 2017, Volume 389, Issue 10084, pp. 2105 - 2116
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Women | Clinical trials | Hysterectomy | Health aspects | Surgery | Mortality | Medical research | Analysis | Patient outcomes | Medicine, Experimental | Mothers | Postpartum period | Intravenous administration | Risk | Birth | Hemorrhage | Evidence-based medicine | Clinical outcomes | Bleeding | Postpartum | Maternal mortality | Randomization | Motivation | Drug therapy | Thromboembolism | Vagina | Patients | Trauma | Childbirth & labor | Charities | Side effects | Acids | Womens health | Death | Fatalities | Hygiene | Enzymes | Systematic review | Consent | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Mutation of the RAD51C gene in a Fanconi anemia-like disorder
by Autore, Flavia and Grimwade, David and Wiek, Constanze and Vaz, Fiona and Mathew, Christopher G and Barker, Karen and Hartmann, Linda and Neveling, Kornelia and Kesterton, Ian and Hanenberg, Helmut and Endt, Daniela and Schaal, Heiner and Roberts, Roland G and Schindler, Detlev and Erven, Verena and Freund, Marcel and Fraternali, Franca and Schuster, Beatrice and Mohammed, Shehla and Rahman, Nazneen
Nature genetics, ISSN 1061-4036, 05/2010, Volume 42, Issue 5, pp. 406 - 409
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | Diseases of red blood cells | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Family Health | Infant | Male | Mutation, Missense | DNA-Binding Proteins - genetics | Homozygote | Pedigree | Recombination, Genetic | DNA Repair | Germ-Line Mutation | Female | Consanguinity | Fanconi Anemia - genetics | DNA Damage | Mutation | Child | Infant, Newborn | Gene mutations | Physiological aspects | Genetic aspects | Research | DNA repair | Health aspects | Risk factors | Fanconi's anemia | Proteins | Medical research | Genetics | Cancer | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
by Cullup, Thomas and Kho, Ay Lin and Dionisi-Vici, Carlo and Brandmeier, Birgit and Smith, Frances and Urry, Zoe and Simpson, Michael A and Yau, Shu and Bertini, Enrico and McClelland, Verity and Al-Owain, Mohammed and Koelker, Stefan and Koerner, Christian and Hoffmann, Georg F and Wijburg, Frits A and ten Hoedt, Amber E and Rogers, R. Curtis and Manchester, David and Miyata, Rie and Hayashi, Masaharu and Said, Elizabeth and Soler, Doriette and Kroisel, Peter M and Windpassinger, Christian and Filloux, Francis M and Al-Kaabi, Salwa and Hertecant, Jozef and del Campo, Miguel and Buk, Stefan and Bodi, Istvan and Goebel, Hans-Hilmar and Sewry, Caroline A and Abbs, Stephen and Mohammed, Shehla and Josifova, gana and Gautel, Mathias and Jungbluth, Heinz
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Antigens, Neoplasm - genetics | Humans | Muscle, Skeletal - ultrastructure | Genes, Recessive | Exome | Lysosomes - metabolism | Proteins - metabolism | Biopsy | Agenesis of Corpus Callosum - genetics | Cataract - genetics | Family | Consanguinity | Autophagy - genetics | Muscle, Skeletal - pathology | Mutation | Autophagy (Cytology) | Genetic disorders | Gene mutations | Syndromes | Genetic aspects | Health aspects | Multiple abnormalities | Cell culture | Biomedical research | Homeostasis | Kinases | Autophagy | Defects | Proteins | Studies | Musculoskeletal system | Microscopy | Genetics | Charitable foundations | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
by Clayton-Smith, Jill and O'Sullivan, James and Daly, Sarah and Bhaskar, Sanjeev and Day, Ruth and Anderson, Beverley and Voss, Anne K and Thomas, Tim and Biesecker, Leslie G and Smith, Philip and Fryer, Alan and Chandler, Kate E and Kerr, Bronwyn and Tassabehji, May and Lynch, Sally-Ann and Krajewska-Walasek, Malgorzata and McKee, Shane and Smith, Janine and Sweeney, Elizabeth and Mansour, Sahar and Mohammed, Shehla and Donnai, Dian and Black, Graeme
American journal of human genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 675 - 681
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromatin - metabolism | Histone Acetyltransferases - deficiency | Humans | Histone Acetyltransferases - genetics | INDEL Mutation - genetics | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Gene Expression Regulation, Developmental | Heart Defects, Congenital | Microarray Analysis | Congenital Hypothyroidism - genetics | Facies | Adult | Female | Child | Abnormalities, Multiple - genetics | Mice, Transgenic | Metabolism, Inborn Errors - genetics | Exome - genetics | Animals | Polymorphism, Single Nucleotide - genetics | Mice | Chromosomes, Human, Pair 10 - genetics | Joint Instability | Codon, Nonsense - genetics | Chromatin | Usage | Gene mutations | Analysis | Exome sequencing | Histones | Causes of | Genetic aspects | Research | Health aspects | Multiple abnormalities | Proteins | Genotype & phenotype | Genetic disorders | Mutation | Gene expression | Index Medicus | Exons | Central nervous system | Ear | Development | Blepharophimosis | Histone acetyltransferase | Mental retardation | Cleft lip/palate | Limb buds | Thyroid | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
by Tarpey, P.S and Smith, R and Pleasance, E and Whibley, A and Edkins, S and Hardy, C and O'Meara, S and Latimer, C and Dicks, E and Menzies, A and Stephens, P and Blow, M and Greenman, C and Xue, Y and Tyler-Smith, C and Thompson, D and Gray, K and Anews, J and Barthorpe, S and Buck, G and Cole, J and Dunmore, R and Jones, D and Maddison, M and Mironenko, T and Turner, R and Turrell, K and Varian, J and West, S and Widaa, S and Wray, P and Teague, J and Butler, A and Jenkinson, A and Jia, M and Richardson, D and Shepherd, R and Wooster, R and Tejada, M.I and Martinez, F and Carvill, G and Goliath, R and Brouwer, A.P.M. de and Bokhoven, H. van and Esch, H. van and Chelly, J and Raynaud, M and Ropers, H.H and Abidi, F.E and Srivastava, A.K and Cox, J and Luo, Y and Mallya, U and Moon, J and Parnau, J and Mohammed, S and Tolmie, J.L and Shoubridge, C and Corbett, M and Gardner, A and Haan, E and Rujirabanjerd, S and Shaw, M.A and Vandeleur, L and Fullston, T and Easton, D.F and Boyle, J and Partington, M and Hackett, A and Field, M and Skinner, C and Stevenson, R.E and Bobrow, M and Turner, G and Schwartz, C.E and Gecz, J and Raymond, F.L and Futreal, P.A and Stratton, M.R
Nature genetics, ISSN 1061-4036, 2009, Volume 41, Issue 5, pp. 535 - 543
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Variation | Mental Retardation, X-Linked - genetics | Chromosomes, Human, X - genetics | Pedigree | Humans | Exons - genetics | Female | Male | Chromosome Mapping | Sequence Analysis, DNA - methods | Genetic aspects | Research | Mental retardation | Health aspects | Risk factors | X chromosome | Studies | Data analysis | Genetic disorders | Databases | Disease | Intellectual disabilities | Genes | Learning disabilities | Medical screening | Chromosomes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?
by Pichert, Gabriella and Mohammed, Shehla Nilofer and Ahn, Joo Wook and Ogilvie, Caroline Mackie and Izatt, Louise
Journal of Medical Genetics, ISSN 0022-2593, 08/2011, Volume 48, Issue 8, pp. 535 - 539
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Young Adult | Allelic Imbalance - genetics | Genetic Predisposition to Disease | Neoplasms - genetics | Humans | Child, Preschool | Adult | Infant | Comparative Genomic Hybridization - methods | Infant, Newborn | Usage | Developmental genetics | Comparative genomic hybridization | Genetic aspects | Research | Risk factors | Cancer | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
by Lee, Hsien-Yang and Huang, Yong and Bruneau, Nadine and Roll, Patrice and Roberson, Elisha D.O and Hermann, Mark and Quinn, Emily and Maas, James and Edwards, Robert and Ashizawa, Tetsuo and Baykan, Betul and Bhatia, Kailash and Bressman, Susan and Bruno, Michiko K and Brunt, Ewout R and Caraballo, Roberto and Echenne, Bernard and Fejerman, Natalio and Frucht, Steve and Gurnett, Christina A and Hirsch, Edouard and Houlden, Henry and Jankovic, Joseph and Lee, Wei-Ling and Lynch, David R and Mohammed, Shehla and Müller, Ulrich and Nespeca, Mark P and Renner, David and Rochette, Jacques and Rudolf, Gabrielle and Saiki, Shinji and Soong, Bing-Wen and Swoboda, Kathryn J and Tucker, Sam and Wood, Nicholas and Hanna, Michael and Bowcock, Anne M and Szepetowski, Pierre and Fu, Ying-Hui and Ptáček, Louis J
Cell reports (Cambridge), ISSN 2211-1247, 01/2012, Volume 1, Issue 1, pp. 2 - 12
GLUT1 | EXOCYTOSIS | FAMILIES | CONFIRMATION | SUGGESTS | LINKAGE | LOCUS | UMCG Approved | HUMAN-CHROMOSOME 16 | DYSTONIC CHOREOATHETOSIS | 16P12-Q12 | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Protein Binding - genetics | Central Nervous System - metabolism | Seizures - genetics | Species Specificity | Dystonia - complications | Humans | Molecular Sequence Data | Male | Seizures - complications | Dystonia - genetics | Nerve Tissue Proteins - chemistry | HEK293 Cells | Female | Amino Acid Sequence | Membrane Proteins - genetics | Rats | Mutant Proteins - metabolism | DNA Copy Number Variations - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Phenotype | Sequence Alignment | Animals | Membrane Proteins - chemistry | Pedigree | Alleles | Mice | Synaptosomal-Associated Protein 25 - metabolism | Chromosome Segregation - genetics | Index Medicus | Axons | Cell culture | paroxysmal kinesigenic | SNAP-25 protein | Heredity | Mutation | Convulsions | Movement disorders | Dyskinesia | Membrane proteins
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Wiedemann-Rautenstrauch syndrome: A phenotype