X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (206) 206
Book / eBook (78) 78
Newspaper Article (46) 46
Publication (43) 43
Dissertation (18) 18
Magazine Article (7) 7
Book Review (3) 3
Book Chapter (2) 2
Trade Publication Article (2) 2
Paper (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (107) 107
index medicus (88) 88
female (73) 73
genetics & heredity (70) 70
male (69) 69
mutation (45) 45
child (36) 36
phenotype (32) 32
genetic aspects (31) 31
adult (30) 30
genetics (28) 28
child, preschool (27) 27
research (26) 26
adolescent (24) 24
article (23) 23
pediatrics (22) 22
children (20) 20
infant (20) 20
risk factors (20) 20
history (18) 18
middle aged (18) 18
united states (18) 18
diagnosis (17) 17
gene mutations (17) 17
young adult (16) 16
analysis (15) 15
genes (15) 15
genetic disorders (15) 15
cohort studies (14) 14
gene (14) 14
phenotypes (14) 14
abnormalities, multiple - genetics (13) 13
syndrome (13) 13
animals (12) 12
biochemistry & molecular biology (12) 12
health aspects (12) 12
history and criticism (12) 12
pedigree (12) 12
proteins (12) 12
abridged index medicus (11) 11
electronic books (11) 11
family (11) 11
human genetics (11) 11
infant, newborn (11) 11
intellectual disability (11) 11
intellectual disability - genetics (11) 11
mutations (11) 11
patients (11) 11
care and treatment (10) 10
childrens health (10) 10
disease (10) 10
ireland (10) 10
mental-retardation (10) 10
physiological aspects (10) 10
aged (9) 9
biography (9) 9
causes of (9) 9
dna mutational analysis (9) 9
genetic research (9) 9
intellectual disabilities (9) 9
medical and health sciences (9) 9
medicin och hälsovetenskap (9) 9
mortality (9) 9
prevalence (9) 9
report (9) 9
risk (9) 9
autism (8) 8
cancer (8) 8
chromosome deletion (8) 8
de-novo mutations (8) 8
education (8) 8
exons (8) 8
families (8) 8
genotype & phenotype (8) 8
medical colleges (8) 8
medical genetics (8) 8
molecular sequence data (8) 8
social aspects (8) 8
studies (8) 8
authors, english (7) 7
biographies (7) 7
developmental disabilities - genetics (7) 7
epilepsy (7) 7
europe (7) 7
expression (7) 7
genetic screening (7) 7
magnetic resonance imaging (7) 7
mental retardation (7) 7
missense mutation (7) 7
nuclear proteins - genetics (7) 7
pregnancy (7) 7
prevention (7) 7
seizures (7) 7
surgery (7) 7
brain (6) 6
complex (6) 6
critical care medicine (6) 6
data processing (6) 6
description and travel (6) 6
developmental disabilities (6) 6
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Robarts - Stacks (37) 37
Gerstein Science - Stacks (9) 9
UTL at Downsview - May be requested (9) 9
Collection Dvlpm't (Acquisitions) - Vendor file (7) 7
St. Michael's College (John M. Kelly) - 2nd Floor (6) 6
UofT at Mississauga - Stacks (6) 6
Music - Stacks (5) 5
Victoria University E.J. Pratt - Stacks (5) 5
OISE - Stacks (4) 4
Online Resources - Online (3) 3
Trinity College (John W Graham) - Storage (3) 3
Innis College - Stacks (2) 2
New College (Ivey) - Stacks (2) 2
Thomas Fisher Rare Book - Rare Book (2) 2
Collection Dvlpm't (Acquisitions) - Cancelled Order (1) 1
Collection Dvlpm't (Acquisitions) - Closed Orders (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Knox College (Caven) - Stacks (1) 1
Massey College (Robertson Davies) - Rare Book (1) 1
Music - Library use only (1) 1
Pontifical Inst. Mediaeval Studies - Library use only (1) 1
Providence Healthcare - Reference (1) 1
Robarts - Course Reserves (1) 1
Robarts - Storage (1) 1
Royal Ontario Museum - Periodical Stacks (1) 1
Royal Ontario Museum - Stacks (1) 1
Scarborough Hospital - Hospital Department (1) 1
St. Augustine's Seminary - Stacks (1) 1
Trinity College (John W Graham) - Stacks (1) 1
University College (Laidlaw) - Stacks (1) 1
UofT at Scarborough - Stacks (1) 1
Victoria University E.J. Pratt - Reference (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A350
IntroductionRett syndrome (RS) is an X-linked dominant neurodevelopmental disorder affecting girls, most commonly caused by MECP2 loss-of-function mutations.... 
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A351
AimsWe report the case of a male infant who presented following a normal pregnancy with typical symptoms of X-linked infantile spinal muscular atrophy... 
Journal Article
European Neuropsychopharmacology, ISSN 0924-977X, 01/2019, Volume 29, p. S980
The Neurexin1 (NRXN1; 2p16.3) gene has been identified as a rare but significant genetic risk factor for neurodevelopmental disorders including Autism Spectrum... 
Autism | Anisotropy | Schizophrenia | Genetic aspects | Information management | Batteries
Journal Article
European Neuropsychopharmacology, ISSN 0924-977X, 2019, Volume 29, pp. S980 - S981
Journal Article
European Neuropsychopharmacology, ISSN 0924-977X, 2019, Volume 29, pp. S980 - S981
Journal Article
European Journal of Obstetrics and Gynecology, ISSN 0301-2115, 09/2018, Volume 228, pp. 43 - 47
Irish Travellers are an endogamous nomadic ethnic minority population mostly resident on the island of Ireland with smaller populations living in Europe & USA.... 
Single gene disorder | Congenital anomaly | Autosomal recessive | Ethnic minority | Irish Traveller | DEFECTS | REPRODUCTIVE BIOLOGY | MUTATION CAUSES | DEFICIENCY | OBSTETRICS & GYNECOLOGY | Minority Groups | Pregnancy | Ethnic Groups - genetics | Humans | Ireland | Prenatal Diagnosis | Female | Genetic Diseases, Inborn | Travelers | Genetic research | Medical colleges | Genetic disorders
Journal Article
Journal of Community Genetics, ISSN 1868-310X, 4/2016, Volume 7, Issue 2, pp. 119 - 126
The origins of clinical genetics services vary throughout Europe with some emerging from paediatric medicine and others from an academic laboratory setting. In... 
Human Genetics | Gene Function | Rare disease research funding | Public Health | Biomedicine | Gene Therapy | Europe | Clinical genetics services | Equity | Epidemiology | ESHG conference | Genetics | Genetic disorders | Research | Diagnosis | Risk factors | Original
Journal Article
Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1329 - 1339
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A97
BackgroundAlthough individually rare, (5 per 10,000) and under-recognised in healthcare systems, collectively Rare Diseases (RDs) are common, with 8,000... 
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A11
BackgroundCystic Fibrosis (CF) is the most common life threatening autosomal recessive multisystem disease in the Republic of Ireland (ROI); with a previously... 
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A19
BackgroundGonadoblastoma (GB) is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at... 
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2015, Volume 97, Issue 4, pp. 535 - 545
Journal Article
Nature Genetics, ISSN 1061-4036, 2006, Volume 38, Issue 8, pp. 917 - 920
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 675 - 681
Journal Article
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as... 
SISTER-CHROMATID COHESION | <