X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (16303) 16303
Book Review (2723) 2723
Publication (1978) 1978
Book Chapter (222) 222
Conference Proceeding (87) 87
Book / eBook (26) 26
Dissertation (8) 8
Magazine Article (7) 7
Data Set (4) 4
Paper (2) 2
Reference (2) 2
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (12752) 12752
humans (10637) 10637
female (5371) 5371
male (5115) 5115
variants (4653) 4653
mutation (3286) 3286
genetics & heredity (3260) 3260
genetic aspects (3042) 3042
adult (2975) 2975
middle aged (2859) 2859
analysis (2405) 2405
genes (2292) 2292
genetics (2256) 2256
variant (2218) 2218
research (2199) 2199
animals (2090) 2090
aged (1918) 1918
genomics (1779) 1779
biochemistry & molecular biology (1778) 1778
phenotype (1748) 1748
article (1687) 1687
genetic predisposition to disease (1655) 1655
genotype (1588) 1588
risk factors (1551) 1551
genomes (1518) 1518
neurosciences (1513) 1513
mutations (1489) 1489
proteins (1431) 1431
child (1415) 1415
polymorphism, single nucleotide (1405) 1405
adolescent (1377) 1377
disease (1348) 1348
diagnosis (1307) 1307
genome-wide association (1288) 1288
genetic research (1284) 1284
genetic variation (1232) 1232
risk (1222) 1222
cancer (1209) 1209
gene (1190) 1190
pathology (1136) 1136
multidisciplinary sciences (1103) 1103
research article (1094) 1094
expression (1072) 1072
clinical neurology (1064) 1064
association (1062) 1062
health aspects (1044) 1044
medicine (1029) 1029
oncology (1020) 1020
alleles (1014) 1014
identification (991) 991
young adult (981) 981
gene expression (945) 945
studies (937) 937
child, preschool (919) 919
psychiatry (912) 912
cell biology (892) 892
genome-wide association study (881) 881
population (863) 863
case-control studies (842) 842
schizophrenia (818) 818
physiological aspects (813) 813
autism (764) 764
pedigree (760) 760
abridged index medicus (759) 759
gene mutations (759) 759
medical research (759) 759
polymorphism (757) 757
molecular sequence data (735) 735
gene frequency (727) 727
medicine & public health (726) 726
aged, 80 and over (709) 709
mice (690) 690
science (682) 682
spectrum (673) 673
susceptibility (665) 665
deoxyribonucleic acid--dna (652) 652
biology (646) 646
care and treatment (638) 638
usage (636) 636
single nucleotide polymorphisms (634) 634
amino acid sequence (631) 631
infant (630) 630
children (626) 626
tumors (603) 603
genetic association studies (598) 598
development and progression (591) 591
dna (588) 588
neurology (582) 582
protein (579) 579
dna sequencing (573) 573
patients (562) 562
dna mutational analysis (560) 560
common variants (558) 558
prevalence (551) 551
epidemiology (540) 540
immunohistochemistry (539) 539
base sequence (534) 534
medicine, experimental (532) 532
polymorphism, single nucleotide - genetics (528) 528
pharmacology & pharmacy (527) 527
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (13) 13
Mathematical Sciences - Stacks (1) 1
Providence Healthcare - Stacks (1) 1
Robarts - Stacks (1) 1
Scarborough Hospital - Birchmount (1) 1
St. Michael's Hospital - Stacks (1) 1
UTL at Downsview - May be requested (1) 1
UofT at Scarborough - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (16392) 16392
German (60) 60
Japanese (19) 19
French (17) 17
Spanish (17) 17
Russian (10) 10
Chinese (6) 6
Korean (6) 6
Italian (4) 4
Turkish (4) 4
Polish (2) 2
Portuguese (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Annals of Internal Medicine, ISSN 0003-4819, 03/2000, Volume 132, Issue 6, pp. 425 - 434
Journal Article
Neuron, ISSN 0896-6273, 09/2015, Volume 87, Issue 6, pp. 1215 - 1233
Journal Article
Human Mutation, ISSN 1059-7794, 07/2015, Volume 36, Issue 7, pp. 660 - 668
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1 , is typically characterized by multisystem involvement including early... 
Alström Syndrome | SNV | ALMS1 | ciliopathy | Ciliopathy | PROTEIN | VARIANTS | BARDET-BIEDL | CARDIOMYOPATHY | PHENOTYPE | IDENTIFICATION | OBESITY | DISEASES | GENE | GENETICS & HEREDITY | EARLY-ONSET | Alstrom Syndrome | Proteins - genetics | Young Adult | Exons | Pedigree | Humans | Adolescent | Alstrom Syndrome - genetics | Adult | Mutation | Child | Type 2 diabetes | Genetic aspects | Obesity in children | Analysis | Blindness | Genetic disorders | Index Medicus
Journal Article
by Pinto, Dalila and Delaby, Elsa and Merico, Daniele and Barbosa, Mafalda and Merikangas, Alison and Klei, Lambertus and Thiruvahindrapuram, Bhooma and Xu, Xiao and Ziman, Robert and Wang, Zhuozhi and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pilorge, Marion and Pellecchia, Giovanna and Pagnamenta, Alistair T and Oliveira, Guiomar and Oliveira, Bárbara and Marshall, Christian R and Magalhaes, Tiago R and Lowe, Jennifer K and Howe, Jennifer L and Griswold, Anthony J and Gilbert, John and Duketis, Eftichia and Dombroski, Beth A and De Jonge, Maretha V and Cuccaro, Michael and Crawford, Emily L and Correia, Catarina T and Conroy, Judith and Conceição, Inês C and Chiocchetti, Andreas G and Casey, Graham and Casey, Jillian P and Cai, Guiqing and Cabrol, Christelle and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Gallinger, Steven and Cotterchio, Michelle and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wing, Kirsty and Wallace, Simon and van Engeland, Herman and Tryfon, Ana and Thomson, Susanne and Soorya, Latha and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McInnes, L. Alison and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jiménez González, Patricia and Jacob, Suma and Holt, Richard and Guter, Stephen and Green, Jonathan and Green, Andrew and Gillberg, Christopher and Fernandez, Bridget A and Duque, Frederico and Delorme, Richard and Dawson, Geraldine and Chaste, Pauline and Café, Cátia and Brennan, Sean and Bourgeron, Thomas and Bolton, Patrick F and Bölte, Sven and Bernier, Raphael and Baird, Gillian and Bailey, Anthony J and Anagnostou, Evdokia and Almeida, Joana and Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Gerard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M and Hakonarson, Hakon and Haines, Jonathan L and Geschwind, Daniel H and Freitag, Christine M and Folstein, Susan E and Ennis, Sean and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Journal Article
by Yuen, Ryan K C and Merico, Daniele and Bookman, Matt and Howe, Jennifer L and Thiruvahinapuram, Bhooma and Patel, Rohan V and Whitney, Joe and Deflaux, Nicole and Bingham, Jonathan and Wang, Zhuozhi and Pellecchia, Giovanna and Buchanan, Janet A and Walker, Susan and Marshall, Christian R and Uddin, Mohammed and Zarrei, Mehdi and Deneault, Eric and D'Abate, Lia and Chan, Ada J S and Koyanagi, Stephanie and Paton, Tara and Pereira, Sergio L and Hoang, Ny and Engchuan, Worrawat and Higginbotham, Edward J and Ho, Karen and Lamoureux, Sylvia and Li, Weili and MacDonald, Jeffrey R and Nalpathamkalam, Thomas and Sung, Wilson W L and Tsoi, Fiona J and Wei, John and Xu, Lizhen and Tasse, Anne Marie and Kirby, Emily and Van Etten, William and Twigger, Simon and Roberts, Wendy and ic, Irene and Jilderda, Sanne and Modi, Bonnie Mackinnon and Kellam, Barbara and Szego, Michael and Cytrynbaum, Cheryl and Weksberg, Rosanna and Zwaigenbaum, Lonnie and Woodbury-Smith, Marc and Brian, Jessica and Senman, Lili and Iaboni, Alana and Doyle-Thomas, Krissy and Thompson, Ann and Chrysler, Christina and Leef, Jonathan and Savion-Lemieux, Tal and Smith, Isabel M and Liu, Xudong and Nicolson, Rob and Seifer, Vicki and Fedele, Angie and Cook, Edwin H and Dager, Stephen and Estes, Annette and Gallagher, Louise and Malow, Beth A and Parr, Jeremy R and Spence, Sarah J and Vorstman, Jacob|info:eu-repo/dai/nl/304817023 and Frey, Brendan J and Robinson, James T and Strug, Lisa J and Fernandez, Bridget A and Elsabbagh, Mayada and Carter, Melissa T and Hallmayer, Joachim and Knoppers, Bartha M and Anagnostou, Evdokia and Szatmari, Peter and Ring, Robert H and Glazer, David and Pletcher, Mathew T and Scherer, Stephen W
Nature Neuroscience, ISSN 1097-6256, 03/2017, Volume 20, Issue 4, pp. 602 - 611
Journal Article
Science, ISSN 0036-8075, 4/2013, Volume 340, Issue 6128, pp. 71 - 75
Journal Article