X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (39) 39
genetics & heredity (33) 33
female (29) 29
index medicus (29) 29
male (23) 23
pregnancy (18) 18
phenotype (16) 16
obstetrics & gynecology (12) 12
genetics (11) 11
mutation (11) 11
mutations (11) 11
abnormalities, multiple - genetics (10) 10
adult (10) 10
child, preschool (10) 10
pedigree (10) 10
prenatal diagnosis (10) 10
prenatal-diagnosis (10) 10
ultrasonography, prenatal (10) 10
gestational age (9) 9
child (8) 8
gene (8) 8
genetic aspects (8) 8
history (8) 8
intellectual disability (8) 8
karyotyping (8) 8
german literature (7) 7
history and criticism (7) 7
infant (7) 7
mental retardation (7) 7
adolescent (6) 6
deletion (6) 6
dictionaries (6) 6
germany (6) 6
infant, newborn (6) 6
intellectual disability - genetics (6) 6
mosaicism (6) 6
review (6) 6
syndrome (6) 6
20th century (5) 5
amniocentesis (5) 5
arid1b (5) 5
article (5) 5
biochemistry & molecular biology (5) 5
biography (5) 5
chromosome aberrations (5) 5
confined placental mosaicism (5) 5
expression (5) 5
genes (5) 5
genomes (5) 5
middle aged (5) 5
prenatal screening (5) 5
skeletal dysplasia (5) 5
ultrasound (5) 5
acoustics (4) 4
analysis (4) 4
aneuploidy (4) 4
autism (4) 4
cartilage (4) 4
dna copy number variations (4) 4
dna-binding proteins - genetics (4) 4
england (4) 4
fetal death (4) 4
genetic association studies (4) 4
genotype (4) 4
genotype & phenotype (4) 4
genotype-phenotype (4) 4
geschichte (4) 4
journal article (4) 4
pathology (4) 4
radiography (4) 4
radiology, nuclear medicine & medical imaging (4) 4
research (4) 4
retrospective studies (4) 4
transcription factors - genetics (4) 4
trisomy 21 (4) 4
young adult (4) 4
19th century (3) 3
abnormalities, multiple - diagnosis (3) 3
antonyms (3) 3
authors, german (3) 3
autism spectrum disorder (3) 3
base sequence (3) 3
bias (3) 3
bio-bibliography (3) 3
cell-free dna (3) 3
chromatin-remodeling complex (3) 3
chromosome duplication (3) 3
chromosomes (3) 3
coffin-siris syndrome (3) 3
col2a1 (3) 3
comparative genomic hybridization (3) 3
consanguinity (3) 3
copy number (3) 3
cvs mosaicism (3) 3
de-novo mutations (3) 3
deficiency (3) 3
developmental disabilities - genetics (3) 3
diagnosis (3) 3
dna - analysis (3) 3
dna mutational analysis (3) 3
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 (12) 12
Robarts - Stacks (11) 11
St. Michael's College (John M. Kelly) - 2nd Floor (2) 2
Victoria University E.J. Pratt - Reference (2) 2
Collection Dvlpm't (Acquisitions) - Vendor file (1) 1
Dentistry (Harry R Abbott) - May be requested in 6-10 wks (1) 1
Law (Bora Laskin) - May be requested in 6-10 wks (1) 1
Music - Stacks (1) 1
New College (Ivey) - Stacks (1) 1
Pontifical Inst. Mediaeval Studies - Library use only (1) 1
Regis College - Storage (1) 1
Robarts - Reference (1) 1
St. Michael's College (John M. Kelly) - 3rd Floor (1) 1
UofT at Mississauga - Stacks (1) 1
UofT at Scarborough - Stacks (1) 1
Victoria University CRRS - Library use only (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (145) 145
German (33) 33
Japanese (5) 5
Dutch (2) 2
French (2) 2
Danish (1) 1
Italian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Cell, ISSN 0092-8674, 2008, Volume 135, Issue 1, pp. 37 - 48
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 922 - 932
We describe an X-linked genetic syndrome associated with mutations in and manifesting with global developmental delay, intellectual disability (ID),... 
transcription | abnormal gait | dystonia | developmental delay | facial dysmorphology | neurologic features | intellectual disability | intergluteal crease | TAF1 | COMPLEX | CORNELIA | GENE | TRANSCRIPTION | GENETICS & HEREDITY | NEURON-SPECIFIC ISOFORM | PHENOTYPE | DE-LANGE-SYNDROME | MUTATIONS | EXPRESSION | BINDING | TATA-Binding Protein Associated Factors - metabolism | Developmental Disabilities - metabolism | Humans | Child, Preschool | Histone Acetyltransferases - genetics | Infant | Male | Developmental Disabilities - genetics | Transcription Factor TFIID - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | Inheritance Patterns | Transcription Factor TFIID - genetics | Young Adult | Developmental Disabilities - pathology | Histone Acetyltransferases - metabolism | Facies | Child | Disease Models, Animal | Neurodegenerative Diseases - pathology | Signal Transduction | Gene Expression Regulation | Intellectual Disability - pathology | Neurodegenerative Diseases - genetics | Zebrafish | Neurodegenerative Diseases - metabolism | TATA-Binding Protein Associated Factors - genetics | E-Box Elements | Phenotype | Animals | Pedigree | Adolescent | Family | Mutation | Causes of | Neurologic manifestations of general diseases | Genetic aspects | Genetic variation | Health aspects | Mental retardation | Report
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2012, Volume 82, Issue 3, pp. 248 - 255
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2303 - 2310
Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in... 
fetal anomalies | parental counseling | exome sequencing | clinical impact | perinatal management
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 09/2019, Volume 21, Issue 9, pp. 2159 - 2164
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.)... 
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 2018, Volume 84, Issue 5, pp. 788 - 795
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously... 
NEUROBEACHIN | AUTISM | DE-NOVO MUTATIONS | FRAMEWORK | PATIENT | SPECTRUM | NEUROSCIENCES | CLINICAL NEUROLOGY | DELETION | Autism | Phenotypes | Neurodevelopmental disorders | Patients | Epilepsy | Seizures | Life Sciences | Genetics | Human genetics
Journal Article
by Cheng, Hanyin and Dharmadhikari, Avinash V and Varland, Sylvia and Ma, Ning and Domingo, Deepti and Kleyner, Robert and Rope, Alan F and Yoon, Margaret and Stray-Pedersen, Asbjørg and Posey, Jennifer E and Crews, Sarah R and Eldomery, Mohammad K and Akdemir, Zeynep Coban and Lewis, Andrea M and Sutton, Vernon R and Rosenfeld, Jill A and Conboy, Erin and Agre, Katherine and Xia, Fan and Walkiewicz, Magdalena and Longoni, Mauro and High, Frances A and van Slegtenhorst, Marjon A and Mancini, Grazia M.S and Finnila, Candice R and van Haeringen, Arie and den Hollander, Nicolette and Ruivenkamp, Claudia and Naidu, Sakkubai and Mahida, Sonal and Palmer, Elizabeth E and Murray, Lucinda and Lim, Derek and Jayakar, Parul and Parker, Michael J and Giusto, Stefania and Stracuzzi, Emanuela and Romano, Corrado and Beighley, Jennifer S and Bernier, Raphael A and Küry, Sébastien and Nizon, Mathilde and Corbett, Mark A and Shaw, Marie and Gardner, Alison and Barnett, Christopher and Armstrong, Ruth and Kassahn, Karin S and Van Dijck, Anke and Vandeweyer, Geert and Kleefstra, Tjitske and Schieving, Jolanda and Jongmans, Marjolijn J and de Vries, Bert B.A and Pfundt, Rolph and Kerr, Bronwyn and Rojas, Samantha K and Boycott, Kym M and Person, Richard and Willaert, Rebecca and Eichler, Evan E and Kooy, R. Frank and Yang, Yaping and Wu, Joseph C and Lupski, James R and Arnesen, Thomas and Cooper, Gregory M and Chung, Wendy K and Gecz, Jozef and Stessman, Holly A.F and Meng, Linyan and Lyon, Gholson J
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 985 - 994
Journal Article