X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (30) 30
female (19) 19
index medicus (19) 19
genetics & heredity (15) 15
male (15) 15
child (11) 11
infant (11) 11
mutation (10) 10
pediatrics (9) 9
article (8) 8
health aspects (8) 8
pregnancy (8) 8
child, preschool (7) 7
genes (7) 7
genetic aspects (7) 7
infant, newborn (7) 7
adult (6) 6
syndrome (6) 6
adolescent (5) 5
children (5) 5
diagnosis (5) 5
mutations (5) 5
neurodegeneration (5) 5
proteins (5) 5
abnormalities, multiple - pathology (4) 4
animals (4) 4
autism (4) 4
gene (4) 4
gene deletion (4) 4
gene mutations (4) 4
genetics (4) 4
genomes (4) 4
patients (4) 4
phenotype (4) 4
risk factors (4) 4
analysis (3) 3
ataxia (3) 3
autism spectrum disorder - genetics (3) 3
cleft palate - pathology (3) 3
defects (3) 3
discovery (3) 3
epilepsy (3) 3
gene frequency (3) 3
genetic association studies (3) 3
history (3) 3
medicine, general & internal (3) 3
mutation, missense (3) 3
pedigree (3) 3
research (3) 3
retrospective studies (3) 3
zebrafish (3) 3
610 medicine & health (2) 2
abridged index medicus (2) 2
acne (2) 2
adp-ribosylation (2) 2
adprhl2 (2) 2
architecture (2) 2
arh3 (2) 2
attitude of health personnel (2) 2
benzoyl peroxide (2) 2
brain research (2) 2
case-control studies (2) 2
cerebellum (2) 2
cerebellum - pathology (2) 2
children & youth (2) 2
chromosome deletion (2) 2
clinical neurology (2) 2
cohort studies (2) 2
congenital defects (2) 2
craniofacial abnormalities - pathology (2) 2
dermatology (2) 2
developmental biology (2) 2
developmental disabilities - pathology (2) 2
diagnostic (2) 2
disability (2) 2
disease (2) 2
dosage and administration (2) 2
drug therapy (2) 2
ears (2) 2
emergencies (2) 2
emergency medicine (2) 2
exposure (2) 2
family (2) 2
fatal outcome (2) 2
fetal alcohol syndrome (2) 2
fetal heart - abnormalities (2) 2
fetus (2) 2
fetus - pathology (2) 2
framework (2) 2
gene duplication (2) 2
genetic loci (2) 2
genetic predisposition to disease (2) 2
genome, human (2) 2
growth disorders - pathology (2) 2
hospitals, military (2) 2
identification and classification (2) 2
intellectual disability - genetics (2) 2
intestine (2) 2
isotretinoin (2) 2
kabuki syndrome (2) 2
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Robarts - Stacks (3) 3
Knox College (Caven) - Stacks (2) 2
St. Augustine's Seminary - Stacks (2) 2
Pontifical Inst. Mediaeval Studies - Library use only (1) 1
St. Michael's College (John M. Kelly) - 2nd Floor (1) 1
St. Michael's College (John M. Kelly) - 3rd Floor (1) 1
Trinity College (John W Graham) - Stacks (1) 1
Victoria University Emmanuel College - Stacks (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


JAMA - Journal of the American Medical Association, ISSN 0098-7484, 02/2018, Volume 319, Issue 5, pp. 474 - 482
Journal Article
Science, ISSN 0036-8075, 1/2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
Pediatrics, ISSN 0031-4005, 05/2013, Volume 131, Issue 3, pp. S163 - S186
Journal Article
Science, ISSN 0036-8075, 04/2018, Volume 360, Issue 6386, pp. 327 - 331
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 667 - 679
Journal Article
by Tan, Wei Shen and Teo, Chin Hai and Chan, Delcos and Heinrich, Malgorzata and Feber, Andrew and Sarpong, Rachael and Allan, Jennifer and Williams, Norman and Brew‐Graves, Chris and Ng, Chirk Jenn and Kelly, John D and Khetrapal, P and ridhar, A and Baker, H and Ocampo, F and Whotton, N and Dent, K and Pearson, S and Hatton, J and Newton, M and Heeney, E and Green, K and Evans, S and Rogers, M and Dann, A and Cook, J and Cornwell, M and Mills, R and Knight, H and Maher, S and Rane, A and Thomas, S and Reyner, S and Vallejera, G and Adeniran, P and Masood, S and Ridgway, S and Coulding, M and Savill, H and Mccormick, J and Clark, M and Collins, G and Jewers, K and Keith, S and Bowen, G and Hargreaves, J and Riley, K and Srirangam, S and Mistry, R and Chadwick, J and Cocks, S and Hull, R and Loftus, A and Dawson, L and Roberts, H and Main, C and Jain, S and Waymont, C and Rogers, J and Grant, A and Carter, V and Heap, H and Lomas, C and Cooke, P and Baird, Y and Moore, S and Greenslade, S and Margalef, J and Chadbourn, I and Harris, M and Hicks, J and Clitheroe, P and Connolly, S and Hodgkinson, S and Haydock, H and inclair, A and Storr, E and Cogley, L and Natale, S and Lovegrove, W and Smith, S and Smith, K and Hewitt, D and Sriram, R and Atkinson, K and Royle, L and Madine, J and MacLean, K and Walsh, J and Guerdette, M and Hill, M and Payne, D and Power, A and Cannon, J and Devereaux, L and Thompson, A and Scarratt, L and Hodgkiss, T and Johnstone, D and Johnson, J and ... and DETECT II Trial Collaborators and DETECT II trial collaborators
BJU International, ISSN 1464-4096, 09/2019, Volume 124, Issue 3, pp. 408 - 417
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 613 - 623
Journal Article
Elife, ISSN 2050-084X, 2015, Volume 4, Issue MAY, pp. e06602 - 37
Journal Article
Journal Article