Articles

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

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (110) 110
science & technology (104) 104
life sciences & biomedicine (102) 102
male (88) 88
genetics & heredity (87) 87
female (73) 73
biological and medical sciences (70) 70
medical sciences (64) 64
intellectual disability - genetics (55) 55
child (51) 51
medical genetics (51) 51
child, preschool (37) 37
mental retardation (35) 35
adolescent (31) 31
mutation (31) 31
syndrome (31) 31
chromosome deletion (30) 30
fundamental and applied biological sciences. psychology (30) 30
genetic aspects (30) 30
research (30) 30
phenotype (28) 28
abnormalities, multiple - genetics (27) 27
genetics of eukaryotes. biological and molecular evolution (26) 26
infant (26) 26
general aspects. genetic counseling (24) 24
adult (22) 22
animals (22) 22
molecular sequence data (21) 21
molecular and cellular biology (20) 20
genetics (19) 19
gene mutations (18) 18
intellectual disabilities (18) 18
pedigree (18) 18
adult and adolescent clinical studies (17) 17
base sequence (17) 17
chromosome aberrations (17) 17
intellectual deficiency (17) 17
psychology. psychoanalysis. psychiatry (17) 17
psychopathology. psychiatry (17) 17
mice (15) 15
chromosomes (14) 14
biochemistry & molecular biology (13) 13
genetic disorders (13) 13
genotype & phenotype (13) 13
patients (12) 12
chromosome mapping (11) 11
cohort studies (11) 11
dna-binding proteins - genetics (11) 11
genes (11) 11
infant, newborn (11) 11
risk factors (11) 11
deoxyribonucleic acid--dna (10) 10
genomes (10) 10
medical research (10) 10
amino acid sequence (9) 9
intellectual disability - pathology (9) 9
middle aged (9) 9
proteins (9) 9
abnormalities, multiple - pathology (8) 8
family health (8) 8
genetic predisposition to disease (8) 8
genetic testing (8) 8
genome, human (8) 8
genomics (8) 8
health aspects (8) 8
in situ hybridization, fluorescence (8) 8
nuclear proteins - genetics (8) 8
sequence analysis, dna (8) 8
transcription factors - genetics (8) 8
usage (8) 8
analysis (7) 7
causes of (7) 7
dna copy number variations (7) 7
dna mutational analysis (7) 7
gene deletion (7) 7
gene expression (7) 7
human medicine (7) 7
identification and classification (7) 7
mental retardation, x-linked - genetics (7) 7
mutation - genetics (7) 7
neurology (7) 7
oligonucleotide array sequence analysis (7) 7
studies (7) 7
autism (6) 6
cartilage, articular - metabolism (6) 6
defects (6) 6
diagnosis (6) 6
gene dosage (6) 6
gene duplication (6) 6
genetic variation (6) 6
haplotypes (6) 6
heterozygote (6) 6
karyotyping (6) 6
magnetic resonance imaging (6) 6
rheumatoid arthritis (6) 6
abridged index medicus (5) 5
aged (5) 5
array cgh (5) 5
complex syndromes (5) 5
craniofacial abnormalities - genetics (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text A de novo paradigm for mental retardation
by Vissers, L.E.L.M and Ligt, J. de and Gilissen, C.F.H.A and Janssen, I.M and Steehouwer, M and Vries, P.F. de and Lier, B. van and Arts, P.J.W and Wieskamp, N.A.W and Rosario, M. del and Bon, B.W.M. van and Hoischen, A and Vries, L.B.A. de and Brunner, H.G and Veltman, J.A
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
by de Ligt, Joep and Willemsen, Marjolein H and van Bon, Bregje W.M and Kleefstra, Tjitske and Yntema, Helger G and Kroes, Thessa and Vulto-van Silfhout, Anneke T and Koolen, David A and de Vries, Bert B.A and de Vries, Petra and Gilissen, Christian and del Rosario, Marisol and Hoischen, Alexander and Scheffer, Hans and Brunner, Han G and Veltman, Joris A and Vissers, Lisenka E.L.M
The New England journal of medicine, ISSN 0028-4793, 11/2012, Volume 367, Issue 20, pp. 1921 - 1929
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | General aspects | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Medical sciences | Genes, Recessive - genetics | Humans | Male | Sequence Analysis, DNA | Intellectual Disability - genetics | Young Adult | Exome - genetics | Genes, X-Linked | Adolescent | Female | Genetic Diseases, X-Linked - genetics | Mutation | Child | Usage | Gene mutations | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis | Mental retardation | Disabled people | Phenotypes | Intellectual disabilities | Families & family life | Aging | Data processing | Quality of life | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Genome sequencing identifies major causes of severe intellectual disability
by Gilissen, C and Hehir-Kwa, J.Y and Thung, D.T and Vorst, M. van de and Bon, B.W.M. van and Willemsen, M.H and Kwint, M and Janssen, I.M and Hoischen, A and Schenck, A and Leach, R and Klein, R and Tearle, R and Bo, T and Pfundt, R and Yntema, H.G and Vries, L.B.A. de and Kleefstra, T and Brunner, H.G and Vissers, L.E.L.M and Veltman, J.A
Nature (London), ISSN 0028-0836, 2014, Volume 511, Issue 7509, pp. 344 - 347
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Guanine Nucleotide Exchange Factors - genetics | Chromosomes, Human, X - genetics | Humans | Male | DNA Copy Number Variations - genetics | Chromosomes, Human, Pair 4 - genetics | Mutation - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Intellectual Disability - genetics | Gene Duplication - genetics | Polymorphism, Single Nucleotide - genetics | Cohort Studies | Gene mutations | Genetic variation | Causes of | Genetic aspects | Nucleotide sequencing | Mental retardation | Identification and classification | Methods | DNA sequencing | Genomes | Mutation | Intellectual disabilities | Patients | Genes | Binding sites | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
by Helsmoortel, C and Silfhout, A.T. van and Coe, B.P and Vandeweyer, G and Rooms, L and Ende, J. van den and Schuurs-Hoeijmakers, J.H.M and Marcelis, C.L.M and Willemsen, M.H and Vissers, L.E.L.M and Yntema, H.G and Bakshi, M and Wilson, M and Witherspoon, K.T and Malmgren, H and Nordgren, A and Anneren, G and Fichera, M and Bosco, P and Romano, C and Vries, L.B.A. de and Kleefstra, T and Kooy, R.F and Eichler, E.E and Aa, N. van der
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Molecular Sequence Data | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Exome - genetics | Child Development Disorders, Pervasive - genetics | Base Sequence | Gene Components | Real-Time Polymerase Chain Reaction | Abnormalities, Multiple - genetics | Codon, Nonsense - genetics | Frameshift Mutation - genetics | Autism | Transcription factors | Genetic aspects | Gene mutations | Identification and classification | Medical research | Comorbidity | Genes | Amino acids | Patients | Recruitment | Proteins | Studies | Confidence intervals | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus | Medicin och hälsovetenskap
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
by Hoischen, A and Bon, B.W.M. van and Gilissen, C.F.H.A and Arts, P.J.W and Lier, B. van and Steehouwer, M and Vries, P.F. de and Reuver, R. de and Wieskamp, N.A.W and Mortier, G and Devriendt, K and Amorim, M.Z and Revencu, N and Kidd, A and Barbosa, M and Turner, A and Smith, J and Oley, C and Henderson, A and Hayes, I.M and Thompson, E.M and Brunner, H.G and Vries, L.B.A. de and Veltman, J.A
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 6, pp. 483 - 485
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Carrier Proteins - genetics | Base Sequence | Face - abnormalities | Humans | Molecular Sequence Data | Mutation | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Syndrome | Intellectual Disability - genetics | Genetic disorders | Gene mutations | Diagnosis | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Medical research | Genes | Genetics | Amino acids | Chromosomes | Mental retardation | Methods | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
by Bernier, Raphael and Golzio, Christelle and Xiong, Bo and Stessman, Holly A and Coe, Bradley P and Penn, Osnat and Witherspoon, Kali and Gerdts, Jennifer and Baker, Carl and Vulto-van Silfhout, Anneke T and Schuurs-Hoeijmakers, Janneke H and Fichera, Marco and Bosco, Paolo and Buono, Serafino and Alberti, Antonino and Failla, Pinella and Peeters, Hilde and Steyaert, Jean and Vissers, Lisenka E.L.M and Francescatto, Ludmila and Mefford, Heather C and Rosenfeld, Jill A and Bakken, Trygve and O’Roak, Brian J and Pawlus, Matthew and Moon, Randall and Shendure, Jay and Amaral, David G and Lein, Ed and Rankin, Julia and Romano, Corrado and de Vries, Bert B.A and Katsanis, Nicholas and Eichler, Evan E
Cell (Cambridge), ISSN 0092-8674, 07/2014, Volume 158, Issue 2, pp. 263 - 276
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Megalencephaly - pathology | Humans | Child, Preschool | Molecular Sequence Data | Child Development Disorders, Pervasive - physiopathology | Male | Macaca mulatta | Brain - growth & development | DNA-Binding Proteins - metabolism | Female | Gastrointestinal Tract - innervation | Child | Child Development Disorders, Pervasive - classification | Amino Acid Sequence | Child Development Disorders, Pervasive - pathology | Zebrafish Proteins - metabolism | Gastrointestinal Tract - physiopathology | Zebrafish | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Transcription Factors - metabolism | Sequence Alignment | Animals | Child Development Disorders, Pervasive - genetics | Adolescent | Brain - pathology | Mutation | Zebrafish Proteins - genetics | Autism | Analysis | Genetic aspects | Medical colleges | Hospitals | Comorbidity | Genomics | Medical genetics | Index Medicus | dysmorphology | zebrafish modeling | enteric neurons | midbrain expansion | macrocephaly | gastrointestinal defect | autism subtypes | forebrain | Autism spectrum disorder
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Refining analyses of copy number variation identifies specific genes associated with developmental delay
by Coe, B.P and Witherspoon, K and Rosenfeld, J.A and Bon, B.W.M. van and Silfhout, A.T. van and Bosco, P and Friend, K.L and Baker, C and Buono, S and Vissers, L.E.L.M and Schuurs-Hoeijmakers, J.H.M and Hoischen, A and Pfundt, R and Krumm, N and Carvill, G.L and Li, D and Amaral, D and Brown, N and Lockhart, P.J and Scheffer, I.E and Alberti, A and Shaw, M and Pettinato, R and Tervo, R and Leeuw, N. de and Reijnders, M.R and Torchia, B.S and Peeters, H and Thompson, E and O'Roak, B.J and Fichera, M and Hehir-Kwa, J.Y and Shendure, J and Mefford, H.C and Haan, E and Gécz, J and Vries, L.B.A. de and Romano, C and Eichler, E.E
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Haploinsufficiency - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Male | Chromosome Mapping | Developmental Disabilities - genetics | Sequence Analysis, DNA | DNA Copy Number Variations | Intellectual Disability - genetics | Carrier Proteins - genetics | Comparative Genomic Hybridization | Base Sequence | Female | Polymorphism, Single Nucleotide | Nuclear Proteins - genetics | Child | Psychological aspects | Copy number variations | Genes | Genetic aspects | Health aspects | Identification and classification | Developmental delay | Studies | Medical research | Autism | Integrated approach | Genomics | Mental health | Mutation | Morbidity | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
by Riviere, J.B and van Bon, B.W and Hoischen, A and Kholmanskikh, S.S and O'Roak, B.J and Gilissen, C.F.H.A and Gijsen, S and Sullivan, C.T and Christian, S.L and Abdul-Rahman, O.A and Atkin, J.F and Chassaing, N and uin-Garraud, V and Fry, A.E and Fryns, J.P and Gripp, K.W and Kempers, M and Kleefstra, T and Mancini, G.M.S and Nowaczyk, M.J and van Ravenswaaij-Arts, C.M and Roscioli, T and Marble, M and Rosenfeld, J.A and Siu, V.M and Vries, L.B.A. de and Shendure, J and Verloes, A and Veltman, J.A and Brunner, H.G and Ross, M.E and Pilz, D.T and Dobyns, W.B
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 4, S1-2
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Amino Acid Sequence | Sequence Deletion | Humans | Coloboma - genetics | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Brain - abnormalities | Mutation, Missense | Sequence Analysis, DNA | Syndrome | Actins - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Sequence Alignment | Base Sequence | Adolescent | Adult | Female | PAX9 Transcription Factor - genetics | Nervous System Malformations - genetics | Child | Abnormalities, Multiple - genetics | Gene mutations | Actin | Physiological aspects | Child development deviations | Genetic aspects | Research | Developmental disabilities | Proteins | Medical research | Genetics | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Clinical significance of de novo and inherited copy-number variation
by Silfhout, A.T. van and Hehir-Kwa, J.Y and Bon, B.W.M. van and Schuurs-Hoeijmakers, J.H.M and Meader, S and Hellebrekers, C.J and Thoonen, I.J and Brouwer, A.P.M. de and Brunner, H.G and Webber, C and Pfundt, R and Leeuw, N. de and Vries, L.B.A. de
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1679 - 1687
CNV | human phenotype ontology | genotype‐phenotype | copy number variation | SNP | Copy number variation | Human phenotype ontology | Genotype-phenotype | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Genetic Association Studies | Humans | Child, Preschool | Male | Chromosome Mapping | DNA Copy Number Variations | Intellectual Disability - genetics | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Female | Polymorphism, Single Nucleotide | Child | Abnormalities, Multiple - genetics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights