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
biological and medical sciences (9472) 9472
medical sciences (9471) 9471
diseases of the osteoarticular system (9469) 9469
malformations and congenital and or hereditary diseases involving bones. joint deformations (9469) 9469
humans (8105) 8105
science & technology (6089) 6089
life sciences & biomedicine (6063) 6063
female (5471) 5471
male (5203) 5203
child (2504) 2504
adult (2445) 2445
radiography (2252) 2252
child, preschool (2015) 2015
adolescent (2007) 2007
infant (1931) 1931
genetics & heredity (1888) 1888
orthopedics (1727) 1727
abridged index medicus (1681) 1681
surgery (1433) 1433
infant, newborn (1371) 1371
middle aged (1077) 1077
pediatrics (1004) 1004
syndrome (888) 888
pedigree (877) 877
mutation (845) 845
follow-up studies (843) 843
medical genetics (723) 723
phenotype (622) 622
retrospective studies (613) 613
animals (595) 595
surgery. transplantations, organ and tissue grafts. graft diseases (572) 572
treatment outcome (561) 561
pregnancy (511) 511
aged (508) 508
abnormalities, multiple - genetics (453) 453
fundamental and applied biological sciences. psychology (453) 453
radiology, nuclear medicine & medical imaging (439) 439
tomography, x-ray computed (418) 418
diagnosis, differential (403) 403
orthopedic surgery (399) 399
magnetic resonance imaging (394) 394
osteochondrodysplasias - genetics (388) 388
molecular sequence data (383) 383
base sequence (377) 377
mice (333) 333
dna mutational analysis (320) 320
osteotomy - methods (310) 310
genetic aspects (306) 306
endocrinology & metabolism (302) 302
neurosciences & neurology (300) 300
osteogenesis imperfecta (288) 288
clinical neurology (286) 286
research (285) 285
fingers - abnormalities (284) 284
tropical medicine (283) 283
miscellaneous. osteoarticular involvement in other diseases (282) 282
general aspects (279) 279
genetics (272) 272
hip dislocation, congenital - diagnostic imaging (269) 269
genetics of eukaryotes. biological and molecular evolution (268) 268
neurology (267) 267
osteochondrodysplasias - diagnostic imaging (267) 267
time factors (267) 267
genes, dominant (262) 262
general aspects. genetic counseling (253) 253
otorhinolaryngology. stomatology (247) 247
chromosome mapping (246) 246
young adult (234) 234
risk factors (229) 229
dentistry (227) 227
amino acid sequence (224) 224
rheumatology (222) 222
genes, recessive (221) 221
craniosynostosis (220) 220
research article (217) 217
medicine & public health (216) 216
hip dislocation, congenital - surgery (215) 215
molecular and cellular biology (214) 214
genetic linkage (208) 208
dermatology (207) 207
genetic disorders (204) 204
abnormalities, multiple - pathology (203) 203
ultrasonography (203) 203
severity of illness index (201) 201
prospective studies (199) 199
analysis (196) 196
genes (196) 196
man (196) 196
age factors (192) 192
biochemistry & molecular biology (189) 189
range of motion, articular (187) 187
bone and bones - diagnostic imaging (184) 184
dentistry, oral surgery & medicine (184) 184
gynecology. andrology. obstetrics (180) 180
prognosis (179) 179
spina bifida (178) 178
osteogenesis imperfecta - genetics (177) 177
bone diseases, developmental - diagnostic imaging (172) 172
genotype (171) 171
hand deformities, congenital - genetics (170) 170
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Insights into Material and Structural Basis of Bone Fragility from Diseases Associated with Fractures: How Determinants of the Biomechanical Properties of Bone Are Compromised by Disease
by Chavassieux, P and Seeman, E and Delmas, P. D
Endocrine reviews, ISSN 0163-769X, 04/2007, Volume 28, Issue 2, pp. 151 - 164
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Osteoporosis. Osteomalacia. Paget disease | Biological and medical sciences | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Bone and Bones - pathology | Bone Density | Bone Diseases - complications | Bone and Bones - physiology | Bone and Bones - chemistry | Humans | Collagen - physiology | Minerals - analysis | Bone Resorption - complications | Biomechanical Phenomena | Animals | Fractures, Bone - etiology | Models, Biological | Fractures, Bone - pathology | Collagen - analysis | Bone Diseases - pathology | Bone Remodeling | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Nosology and classification of genetic skeletal disorders: 2010 revision
by Warman, Matthew L and Cormier‐Daire, Valerie and Hall, Christine and Krakow, Deborah and Lachman, Ralph and LeMerrer, Martine and Mortier, Geert and Mundlos, Stefan and Nishimura, Gen and Rimoin, David L and Robertson, Stephen and Savarirayan, Ravi and Sillence, David and Spranger, Juergen and Unger, Sheila and Zabel, Bernhard and Superti‐Furga, Andrea
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2011, Volume 155, Issue 5, pp. 943 - 968
skeletal genetics | nosology | dysostoses | osteochondrodysplasias | molecular basis of disease | Nosology | Molecular basis of disease | Osteochondrodysplasias | Dysostoses | Skeletal genetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Mutation | Bone Diseases - classification | Humans | Genetic Diseases, Inborn - classification | Homeostasis | Diagnosis | Pediatrics | Hybrids | Databases | Reviews | Classification | Radiology | Floods | Index Medicus | s
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
by Tsurusaki, Yoshinori and Okamoto, Nobuhiko and Ohashi, Hirofumi and Kosho, Tomoki and Imai, Yoko and Hibi-Ko, Yumiko and Kaname, Tadashi and Naritomi, Kenji and Kawame, Hiroshi and Wakui, Keiko and Fukushima, Yoshimitsu and Homma, Tomomi and Kato, Mitsuhiro and Hiraki, Yoko and Yamagata, Takanori and Yano, Shoji and Mizuno, Seiji and Sakazume, Satoru and Ishii, Takuma and Nagai, Toshiro and Shiina, Masaaki and Ogata, Kazuhiro and Ohta, Tohru and Niikawa, Norio and Miyatake, Satoko and Okada, Ippei and Mizuguchi, Takeshi and Doi, Hiroshi and Saitsu, Hirotomo and Miyake, Noriko and Matsumoto, Naomichi
Nature genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Face - abnormalities | Humans | Micrognathism - genetics | Cells, Cultured | Male | DNA Copy Number Variations - genetics | Mutation, Missense | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - genetics | Exome | SMARCB1 Protein | Hand Deformities, Congenital - genetics | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Physiological aspects | Chromatin | Genetic aspects | Research | Gene mutations | Coffin-Siris syndrome | Proteins | Science | Genetics | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Noonan syndrome
by Roberts, Amy E, Dr and Allanson, Judith E, Prof and Tartaglia, Marco, PhD and Gelb, Bruce D, Prof
The Lancet (British edition), ISSN 0140-6736, 2013, Volume 381, Issue 9863, pp. 333 - 342
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Diagnosis, Differential | Prognosis | Noonan Syndrome - genetics | Humans | Noonan Syndrome - therapy | Noonan Syndrome - diagnosis | Causes of | Care and treatment | Genetic aspects | Diagnosis | Noonan syndrome | Hair | Hematology | Medical treatment | Ear diseases | FDA approval | Hearing impairment | Blood | Defects | Proteins | Signal transduction | Child development | Growth hormones | Mutation | Age | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
by Putoux, Auey and Thomas, Sophie and Coene, Karlien L. M and Davis, Erica E and Alanay, Yasemin and Ogur, Gönül and Uz, Elif and Buzas, Daniela and Gomes, Céline and Patrier, Sophie and Bennett, Christopher L and Elkhartoufi, Nadia and Frison, Marie-Hélène Saint and Rigonnot, Luc and Joyé, Nicole and Pruvost, Solenn and Utine, Gulen Eda and Boduroglu, Koray and Nitschke, Patrick and Fertitta, Laura and Thauvin-Robinet, Christel and Munnich, Arnold and Cormier-Daire, Valérie and Hennekam, Raoul and Colin, Estelle and Akarsu, Nurten Ayse and Bole-Feysot, Christine and Cagnard, Nicolas and Schmitt, Alain and Goudin, Nicolas and Lyonnet, Stanislas and Encha-Razavi, Férechté and Siffroi, Jean-Pierre and Winey, Mark and Katsanis, Nicholas and Gonzales, Marie and Vekemans, Michel and Beales, Philip L and Attié-Bitach, Tania
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 6, pp. 601 - 606
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Heart Defects, Congenital - embryology | Humans | Child, Preschool | Hedgehog Proteins - metabolism | Hydrocephalus - pathology | Infant | Male | Hand Deformities, Congenital - embryology | Heart Defects, Congenital - genetics | Kinesin - genetics | Female | Hydrocephalus - genetics | Child | Cerebral Ventricles - pathology | Acrocallosal Syndrome - genetics | Heart Defects, Congenital - pathology | Cilia - genetics | Acrocallosal Syndrome - pathology | Magnetic Resonance Imaging | Hydrocephalus - embryology | Hand Deformities, Congenital - genetics | Pedigree | Adolescent | Consanguinity | Mutation | Hand Deformities, Congenital - pathology | Hydrolethalus syndrome | Acrocallosal syndrome | Gene mutations | Genetic aspects | Research | Health aspects | Risk factors | Studies | Brain | Genotype & phenotype | Fetuses | Genetics | Genomes | Chromosomes | Evacuations & rescues | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes
by Kuemmerle-Deschner, Jasmin B and Hachulla, E and Cartwright, R and Hawkins, P N and Tran, T A and Bader-Meunier, B and Hoyer, J and Gattorno, M and Gul, A and Smith, J and Leslie, K S and Jiménez, S and Morell-Dubois, S and Davis, N and Patel, N and Widmer, A and Preiss, R and Lachmann, H J
Annals of the rheumatic diseases, ISSN 0003-4967, 12/2011, Volume 70, Issue 12, pp. 2095 - 2102
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Immunopathology | Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue | Dermatology | Skin allergic diseases. Stinging insect allergies | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Biological and medical sciences | Allergic diseases | Medical sciences | Cryopyrin-Associated Periodic Syndromes - immunology | Severity of Illness Index | Body Weight | Drug Administration Schedule | Humans | Middle Aged | Antibodies, Monoclonal - adverse effects | Child, Preschool | Antibodies, Monoclonal - therapeutic use | Treatment Outcome | Cryopyrin-Associated Periodic Syndromes - drug therapy | Dose-Response Relationship, Drug | Young Adult | Phenotype | C-Reactive Protein - metabolism | Antibodies, Monoclonal - administration & dosage | Injections, Subcutaneous | Adolescent | Adult | Aged | Child | Interleukin-1beta - antagonists & inhibitors | Skin diseases | Cohort analysis | Care and treatment | Research | Proteins | Studies | Hospitals | Disease | Nervous system | Adults | Inflammation | Mutation | Inflammatory diseases | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
by Pansuriya, Twinkal C and Van Eijk, Ronald and D'Adamo, Pio and Van Ruler, Maayke A.J.H and Kuijjer, Marieke L and Oosting, Jan and Cleton-Jansen, Anne-Marie and Van Oosterwijk, Jolieke G and Verbeke, Sofie L.J and Meijer, Daniëlle and Van Wezel, Tom and Nord, Karolin H and Sangiorgi, Luca and Toker, Berkin and Liegl-Atzwanger, Bernadette and San-Julian, Mikel and Sciot, Raf and Limaye, Nisha and Kindblom, Lars-Gunnar and Daugaard, Soeren and Godfraind, Catherine and Boon, Laurence M and Vikkula, Miikka and Kurek, Kyle C and Szuhai, Karoly and French, Pim J and Bovée, Judith V.M.G
Nature genetics, ISSN 1061-4036, 12/2011, Volume 43, Issue 12, pp. 1256 - 1261
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Tumors of striated muscle and skeleton | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genome-Wide Association Study | Humans | Middle Aged | Gene Expression Regulation | Isocitrate Dehydrogenase - genetics | Male | Gene Expression Profiling | Mutation, Missense | Sequence Analysis, DNA | Case-Control Studies | Young Adult | DNA Methylation | Cell Line, Tumor | Adult | Female | Mosaicism | Transcription, Genetic | Enchondromatosis - genetics | Musculoskeletal diseases | Complications and side effects | Hemangioma | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Diagnosis | Research | Isocitrate dehydrogenase | Risk factors | DNA methylation | Mutation | Disease | Deoxyribonucleic acid--DNA | Tumors | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights