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life sciences & biomedicine (23) 23
science & technology (23) 23
genetics & heredity (21) 21
humans (20) 20
female (16) 16
male (13) 13
biological and medical sciences (10) 10
phenotype (10) 10
medical sciences (9) 9
adult (8) 8
chromosome aberrations (8) 8
medical genetics (7) 7
adolescent (6) 6
chromosome deletion (6) 6
in situ hybridization, fluorescence (6) 6
pedigree (6) 6
syndrome (6) 6
abnormalities, multiple - genetics (5) 5
child (5) 5
comparative genomic hybridization (5) 5
infant (5) 5
child, preschool (4) 4
chromosome banding (4) 4
intellectual disability - genetics (4) 4
aneuploidy (3) 3
chromosome inversion (3) 3
clinical significance (3) 3
developmental disabilities - genetics (3) 3
gene deletion (3) 3
gene dosage (3) 3
gene duplication (3) 3
human (3) 3
intellectual disability - pathology (3) 3
karyotyping (3) 3
laboratories (3) 3
middle aged (3) 3
mosaicism (3) 3
penetrance (3) 3
prenatal diagnosis (3) 3
abnormalities, multiple - pathology (2) 2
aged (2) 2
analysis (2) 2
animals (2) 2
biochemistry & molecular biology (2) 2
bone diseases, developmental - genetics (2) 2
cell biology (2) 2
chromosome disorders - genetics (2) 2
chromosomes (2) 2
chromosomes, human, pair 1 - genetics (2) 2
chromosomes, human, pair 10 (2) 2
chromosomes, human, pair 15 (2) 2
chromosomes, human, pair 8 (2) 2
classical genetics, quantitative genetics, hybrids (2) 2
cnvs (2) 2
consortium (2) 2
copy number (2) 2
dna - genetics (2) 2
dna copy number variations (2) 2
duplication (2) 2
evidence-based approach (2) 2
face - abnormalities (2) 2
fundamental and applied biological sciences. psychology (2) 2
gene rearrangement (2) 2
genetic disorders (2) 2
genetics (2) 2
genetics of eukaryotes. biological and molecular evolution (2) 2
genomes (2) 2
genomics (2) 2
heart defects, congenital - genetics (2) 2
infant, newborn (2) 2
mice (2) 2
multigene family (2) 2
mutation (2) 2
normal phenotype (2) 2
oligonucleotide array sequence analysis (2) 2
polymorphism, single nucleotide - genetics (2) 2
pregnancy (2) 2
trisomy (2) 2
turner syndrome - genetics (2) 2
united kingdom (2) 2
14q terminal deletion syndrome (1) 1
1q24 (1) 1
2p12 (1) 1
2q23.1 (1) 1
3q24q25 deletion (1) 1
8p23.1 (1) 1
abortion, spontaneous (1) 1
adult and adolescent clinical studies (1) 1
age (1) 1
amniocentesis (1) 1
angelman syndrome - genetics (1) 1
benign (1) 1
biochemistry, genetics and molecular biology (1) 1
biologicals (1) 1
blepharophimosis - genetics (1) 1
blepharophimosis - pathology (1) 1
body mass index (1) 1
body size (1) 1
bone and bones - diagnostic imaging (1) 1
bone and bones - metabolism (1) 1
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