X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (603) 603
Publication (66) 66
Book Review (24) 24
Book / eBook (21) 21
Conference Proceeding (21) 21
Newspaper Article (12) 12
Book Chapter (10) 10
Patent (9) 9
Dissertation (8) 8
Magazine Article (5) 5
Web Resource (5) 5
Compact Disc (3) 3
Streaming Audio (1) 1
Video Recording (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (281) 281
humans (217) 217
male (148) 148
female (129) 129
adult (93) 93
middle aged (75) 75
animals (74) 74
mutation (50) 50
neurosciences (45) 45
aged (43) 43
adolescent (39) 39
genetics & heredity (37) 37
biochemistry & molecular biology (34) 34
research (34) 34
mice (31) 31
analysis (30) 30
clinical neurology (30) 30
article (28) 28
genes (28) 28
neurology (28) 28
child (27) 27
genetic aspects (26) 26
young adult (26) 26
endocrinology & metabolism (25) 25
abridged index medicus (24) 24
genetics (24) 24
health aspects (24) 24
multidisciplinary sciences (23) 23
gastroenterology and hepatology (22) 22
pancreatitis (22) 22
phenotype (21) 21
rats (21) 21
proteins (20) 20
risk factors (20) 20
hungary (19) 19
medicine (19) 19
orvostudományok (19) 19
studies (19) 19
age (18) 18
disease (18) 18
ophthalmology (18) 18
surgery (18) 18
radioimmunoassay (17) 17
cyclase-activating polypeptide (16) 16
medicine, general & internal (16) 16
pedigree (16) 16
prospective studies (16) 16
time factors (16) 16
immunohistochemistry (15) 15
medical research (15) 15
molecular sequence data (15) 15
pediatrics (15) 15
physiological aspects (15) 15
rats, wistar (15) 15
research article (15) 15
risk (15) 15
care and treatment (14) 14
child, preschool (14) 14
children (14) 14
diagnosis (14) 14
expression (14) 14
huntington's disease (14) 14
inflammation (14) 14
patients (14) 14
pituitary adenylate cyclase-activating polypeptide - metabolism (14) 14
protein (14) 14
treatment outcome (14) 14
cell biology (13) 13
gene (13) 13
immunology (13) 13
mutation - genetics (13) 13
oxidative stress (13) 13
prevention (13) 13
brain (12) 12
cancer (12) 12
chemistry (12) 12
chromosome mapping (12) 12
data processing (12) 12
elméleti orvostudományok (12) 12
follow-up studies (12) 12
gene mutations (12) 12
history (12) 12
medicine & public health (12) 12
primary health care (12) 12
united states (12) 12
ataxia (11) 11
base sequence (11) 11
biomedicine (11) 11
case-control studies (11) 11
cells (11) 11
dna mutational analysis (11) 11
methamphetamine (11) 11
primary care (11) 11
receptors (11) 11
rodents (11) 11
science (11) 11
aged, 80 and over (10) 10
gastroenterology & hepatology (10) 10
genomes (10) 10
intervention (10) 10
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
UTL at Downsview - May be requested (7) 7
Online Resources - Online (5) 5
Robarts - Stacks (4) 4
Music - Circulation Desk (3) 3
Collection Dvlpm't (Acquisitions) - Vendor file (2) 2
New College (Ivey) - Stacks (2) 2
Earth Sciences (Noranda) - Stacks (1) 1
Engineering & Comp. Sci. - Missing (1) 1
Engineering & Comp. Sci. - Stacks (1) 1
Media Commons - Audio Visual (1) 1
Music - Stacks (1) 1
OISE - Stacks (1) 1
Robarts - Petro Jacyk (1) 1
Royal Ontario Museum - Stacks (1) 1
UofT at Mississauga - Stacks (1) 1
UofT at Scarborough - Stacks (1) 1
Victoria University E.J. Pratt - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (603) 603
Hungarian (87) 87
German (9) 9
French (6) 6
Italian (4) 4
Russian (2) 2
Slovak (2) 2
Spanish (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 4
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1. 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has... 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 04/2019, Volume 10, Issue 1, pp. 1859 - 1859
Journal Article
FRONTIERS IN PHYSIOLOGY, ISSN 1664-042X, 09/2019, Volume 10
Background: C-reactive protein level (CRP) and white blood cell count (WBC) have been variably used in clinical trials on acute pancreatitis (AP). We assessed... 
EARLY ENTERAL NUTRITION | PHYSIOLOGY | C-reactive protein | white blood cell | SERUM INTERLEUKIN-6 | MARKERS | SCORING SYSTEMS | PREDICTION | sample size calculation | acute pancreatitis | DOUBLE-BLIND | trial design | SEVERITY
Journal Article
ChemCatChem, ISSN 1867-3880, 08/2019, Volume 11, Issue 16, pp. 4043 - 4053
DPU and SOL immobilisation have been used to prepare 1 %AuAg/TiO 2 with internal ratio 1 : 1 and 4 : 1 which have been studied as fresh, calcined in air at 300... 
glycerol oxidation | AuAg bimetallic catalyst | synergistic effect | Glycerin | Glycerol | Silver | Catalysts | Gold | Oxidation resistance | Bimetals | Heat treatment | Valence | Roasting | Oxidation | Synergistic effect | Catalysis | Titanium dioxide
Journal Article
Quality of Life Research, ISSN 0962-9343, 8/2019, Volume 28, Issue 8, pp. 2247 - 2254
Journal Article
Quality of Life Research, ISSN 0962-9343, 8/2019, Volume 28, Issue 8, pp. 2255 - 2255
The article “Eculizumab improves fatigue in refractory generalized myasthenia gravis”, written by “Henning Andersen, Renato Mantegazza, Jing Jing Wang, Fanny... 
Quality of Life Research | Public Health | Medicine & Public Health | Sociology, general | Web portals | Medical colleges | Myasthenia gravis
Journal Article
European journal of human genetics : EJHG, 08/2019, Volume 27, Issue 8, pp. 1215 - 1224
Huntington's disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by direct or exclusion testing is available... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 8, pp. 1215 - 1224
Huntington’s disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by direct or exclusion testing is available... 
Pregnancy | Huntingtons disease | Prenatal diagnosis | Risk groups | Decision making | Autonomy | Clinical medicine | Huntington's disease
Journal Article
JCI INSIGHT, ISSN 2379-3708, 07/2019, Volume 4, Issue 14
Genetic susceptibility to chronic pancreatitis in humans is frequently associated with mutations that increase activation of the digestive protease trypsin.... 
MEDICINE, RESEARCH & EXPERIMENTAL | PRSS1 | TRYPSINOGEN ACTIVATION | AUTOACTIVATION | SUSCEPTIBILITY | MOUSE | STRAIN
Journal Article