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

Search Articles

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (207) 207
life sciences & biomedicine (200) 200
humans (192) 192
female (147) 147
genetics & heredity (143) 143
male (129) 129
child (79) 79
mutation (79) 79
child, preschool (69) 69
biological and medical sciences (67) 67
medical sciences (65) 65
genetics (56) 56
phenotype (56) 56
adolescent (53) 53
adult (53) 53
medical genetics (50) 50
infant (49) 49
pregnancy (45) 45
epilepsy (36) 36
research (36) 36
intellectual disability - genetics (35) 35
genetic aspects (34) 34
pedigree (33) 33
abnormalities, multiple - genetics (29) 29
genes (28) 28
syndrome (28) 28
infant, newborn (27) 27
neurosciences & neurology (27) 27
neurology (26) 26
anticonvulsants - adverse effects (25) 25
diagnosis (25) 25
abridged index medicus (24) 24
clinical neurology (24) 24
genetic disorders (24) 24
dna mutational analysis (23) 23
intellectual disability (22) 22
abstracts (21) 21
biochemistry & molecular biology (21) 21
facies (21) 21
fundamental and applied biological sciences. psychology (21) 21
transcription factors - genetics (21) 21
young adult (21) 21
genetic association studies (20) 20
genetics of eukaryotes. biological and molecular evolution (20) 20
genotype & phenotype (20) 20
dna-binding proteins - genetics (19) 19
epilepsy - drug therapy (19) 19
face - abnormalities (19) 19
gene mutations (19) 19
analysis (18) 18
children (18) 18
chromosome deletion (18) 18
genomics (18) 18
health aspects (18) 18
general aspects. genetic counseling (17) 17
intellectual disabilities (17) 17
phenotypes (17) 17
risk factors (17) 17
pediatrics (16) 16
developmental disabilities - genetics (15) 15
molecular and cellular biology (15) 15
patients (15) 15
cohort studies (14) 14
mutation - genetics (14) 14
prospective studies (14) 14
valproic acid - adverse effects (14) 14
animals (13) 13
antiepileptic drugs (13) 13
gene expression (13) 13
medicin och hälsovetenskap (13) 13
ophthalmology (13) 13
genetic testing (12) 12
genomes (12) 12
medical research (12) 12
medicine (12) 12
amino acid sequence (11) 11
autism (11) 11
complex syndromes (11) 11
dk/atira/pure/subjectarea/asjc/1300/1311 (11) 11
dk/atira/pure/subjectarea/asjc/2700/2716 (11) 11
genotype (11) 11
hospitals (11) 11
in situ hybridization, fluorescence (11) 11
life sciences (11) 11
mental retardation (11) 11
mosaicism (11) 11
mutation, missense (11) 11
neurosciences (11) 11
proteins (11) 11
abnormalities, multiple - diagnosis (10) 10
age (10) 10
angelman syndrome (10) 10
chromosomes (10) 10
heart defects, congenital - genetics (10) 10
heterozygote (10) 10
intellectual disability - diagnosis (10) 10
intellectual disability - pathology (10) 10
mice (10) 10
microcephaly - genetics (10) 10
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
The New England journal of medicine, ISSN 0028-4793, 04/2009, Volume 360, Issue 16, pp. 1597 - 1605
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 605 - 613
Journal Article