X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (4083) 4083
Book Review (556) 556
Publication (302) 302
Book Chapter (21) 21
Conference Proceeding (18) 18
Book / eBook (15) 15
Magazine Article (7) 7
Dissertation (2) 2
Newspaper Article (2) 2
Data Set (1) 1
Journal / eJournal (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (3962) 3962
index medicus (3882) 3882
male (2632) 2632
female (2487) 2487
intellectual disability - physiopathology (2206) 2206
child (1923) 1923
adolescent (1462) 1462
adult (1334) 1334
child, preschool (1226) 1226
intellectual disability (860) 860
intellectual disability - genetics (810) 810
infant (702) 702
clinical neurology (681) 681
children (630) 630
mental retardation (567) 567
electroencephalography (553) 553
genetics & heredity (551) 551
intellectual disability - complications (549) 549
middle aged (538) 538
rehabilitation (503) 503
intellectual disabilities (501) 501
neurosciences (465) 465
pediatrics (437) 437
intellectual disability - etiology (420) 420
brain - physiopathology (417) 417
intellectual disability - diagnosis (410) 410
syndrome (409) 409
education, special (400) 400
phenotype (398) 398
animals (388) 388
mutation (382) 382
young adult (373) 373
autism (355) 355
mental-retardation (332) 332
infant, newborn (320) 320
intellectual disability - psychology (316) 316
epilepsy (301) 301
adults (297) 297
epilepsy - physiopathology (290) 290
analysis (272) 272
abridged index medicus (270) 270
magnetic resonance imaging (257) 257
psychiatry (255) 255
down syndrome - physiopathology (250) 250
intelligence (239) 239
brain (232) 232
developmental disabilities - physiopathology (232) 232
abnormalities, multiple - physiopathology (218) 218
behavior (213) 213
neurology (212) 212
age factors (210) 210
research (208) 208
aged (204) 204
genetic aspects (199) 199
down syndrome (196) 196
seizures (191) 191
article (188) 188
follow-up studies (188) 188
pedigree (187) 187
intellectual disability - epidemiology (186) 186
mice (183) 183
child development (177) 177
risk factors (176) 176
adolescents (175) 175
genetics (174) 174
abnormalities, multiple - genetics (173) 173
prognosis (173) 173
prevalence (171) 171
severity of illness index (171) 171
age (165) 165
neuropsychological tests (165) 165
autistic disorder - physiopathology (163) 163
gene (161) 161
intellectual disability - pathology (154) 154
diagnosis, differential (152) 152
brain - pathology (149) 149
genetic disorders (149) 149
cognition (148) 148
mutations (144) 144
chromosome deletion (143) 143
disease models, animal (143) 143
developmental disabilities (142) 142
individuals (141) 141
pregnancy (141) 141
retrospective studies (141) 141
intelligence tests (139) 139
cerebral cortex - physiopathology (133) 133
genes (128) 128
cognitive ability (127) 127
diagnosis (127) 127
disorders (127) 127
time factors (121) 121
memory (120) 120
mental illness (120) 120
seizures - physiopathology (120) 120
case-control studies (117) 117
psychology (117) 117
cerebral palsy - physiopathology (116) 116
epilepsy - complications (115) 115
studies (115) 115
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (10) 10
OISE - Stacks (2) 2
Collection Dvlpm't (Acquisitions) - Closed Orders (1) 1
Collection Dvlpm't (Acquisitions) - Vendor file (1) 1
Gerstein Science - May be requested (1) 1
Gerstein Science - Periodical Stacks (1) 1
Online Resources - Online (1) 1
Robarts - Stacks (1) 1
UTL at Downsview - May be requested (1) 1
Victoria University E.J. Pratt - Stacks (1) 1
West Park Healthcare Centre - Hospital Department (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (3638) 3638
Japanese (135) 135
French (82) 82
Russian (61) 61
Spanish (54) 54
German (49) 49
Italian (26) 26
Polish (10) 10
Danish (9) 9
Dutch (9) 9
Chinese (8) 8
Portuguese (5) 5
Czech (4) 4
Croatian (3) 3
Hebrew (3) 3
Norwegian (3) 3
Hungarian (2) 2
Ukrainian (2) 2
Afrikaans (1) 1
Bulgarian (1) 1
Finnish (1) 1
Icelandic (1) 1
Romanian (1) 1
Serbian (1) 1
Slovak (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 729 - 735
Journal Article
by Allen, Andrew S and Berkovic, Samuel F and Cossette, Patrick and Delanty, Norman and Dlugos, Dennis and Eichler, Evan E and Epstein, Michael P and Glauser, Tracy and Goldstein, David B and Han, Yujun and Heinzen, Erin L and Hitomi, Yuki and Howell, Katherine B and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Lu, Yi-Fan and Madou, Maura R. Z and Marson, Anthony G and Mefford, Heather C and Esmaeeli Nieh, Sahar and O'Brien, Terence J and Ottman, Ruth and Petrovski, Slavé and Poduri, Annapurna and Ruzzo, Elizabeth K and Scheffer, Ingrid E and Sherr, Elliott H and Yuskaitis, Christopher J and Abou-Khalil, Bassel and Alldredge, Brian K and Bautista, Jocelyn F and Boro, Alex and Cascino, Gregory D and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glynn, Simon and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Paolicchi, Juliann M and Parent, Jack M and Park, Kristen and Shellhaas, Renée A and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Lin Thio, Liu and Venkat, Anu and Vining, Eileen P. G and Von Allmen, Gretchen K and Weisenberg, Judith L and Widdess-Walsh, Peter and Winawer, Melodie R and Epi4K Consortium and Epilepsy Phenome/Genome Project
Nature, ISSN 0028-0836, 2013, Volume 501, Issue 7466, pp. 217 - 221
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 847 - 855
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2014, Volume 16, Issue 1, pp. 40 - 44
Journal Article
Human Mutation, ISSN 1059-7794, 02/2013, Volume 34, Issue 2, pp. 385 - 394
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 02/2019, Volume 116, Issue 9, pp. 3662 - 3667
Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS is caused... 
BCKDK | AUTISM | DE-NOVO MUTATIONS | ubiquitination | MULTIDISCIPLINARY SCIENCES | KAUFMAN OCULOCEREBROFACIAL SYNDROME | UBE3B | SPECTRUM | autism spectrum disorder | intellectual disability | CHILDREN | Limb Deformities, Congenital - genetics | Protein Kinases - genetics | Microcephaly - genetics | Humans | Limb Deformities, Congenital - physiopathology | Male | Intellectual Disability - genetics | Facies | Adult | Microcephaly - physiopathology | Language Development Disorders - physiopathology | Child | Language Development Disorders - genetics | Brain - physiopathology | Ubiquitin - genetics | Eye Abnormalities - genetics | Mice, Knockout | Intellectual Disability - physiopathology | Phenotype | Animals | Metabolic Networks and Pathways | Adolescent | Eye Abnormalities - physiopathology | Mice | Mutation | Ubiquitin-Protein Ligases - genetics | Ubiquitination | Intellectual disability | Autism spectrum disorder | Tricarboxylic acid cycle | Growth rate | Intellectual disabilities | Liver | Chain branching | Cortex (somatosensory) | Neurodevelopmental disorders | Mitochondria | Pathways | Metabolites | Grip strength | Ubiquitin-protein ligase | Hypoplasia | Muscles | Metabolism | Patients | Substrates | Corpus callosum | Skeletal muscle | Hereditary diseases | Morphology | Speech | Metabolic pathways | Electron transport | Synapses | Index Medicus | Biological Sciences
Journal Article