X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (84) 84
Publication (19) 19
Conference Proceeding (14) 14
Book Review (5) 5
Patent (2) 2
Dissertation (1) 1
Government Document (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (40) 40
humans (35) 35
female (27) 27
genetics & heredity (26) 26
mutation (24) 24
male (21) 21
genetic aspects (16) 16
article (15) 15
child (15) 15
pedigree (13) 13
adult (10) 10
genes (10) 10
genomes (10) 10
phenotype (10) 10
proteins (10) 10
child, preschool (9) 9
disorders (9) 9
gene expression (9) 9
research (9) 9
abnormalities, multiple - genetics (8) 8
cerebellum - abnormalities (8) 8
eye abnormalities - genetics (8) 8
genetics (8) 8
kidney diseases, cystic - genetics (8) 8
retina - abnormalities (8) 8
ciliopathy (7) 7
genomics (7) 7
mutations (7) 7
pediatrics (7) 7
polymorphism, single nucleotide (7) 7
young adult (7) 7
adolescent (6) 6
analysis (6) 6
animals (6) 6
children (6) 6
ciliopathies (6) 6
clinical neurology (6) 6
cohort studies (6) 6
congenital defects (6) 6
deficiency (6) 6
disease (6) 6
dna mutational analysis (6) 6
genotype (6) 6
infant (6) 6
joubert syndrome (6) 6
magnetic resonance imaging (6) 6
biochemistry & molecular biology (5) 5
brain (5) 5
cerebellum (5) 5
diagnosis (5) 5
exons (5) 5
expression (5) 5
gene (5) 5
gene mutations (5) 5
genetic association studies (5) 5
genetic research (5) 5
medical research (5) 5
medicine, research & experimental (5) 5
mutation, missense (5) 5
neurosciences (5) 5
original (5) 5
physiological aspects (5) 5
transcription factors - genetics (5) 5
whole genome sequencing (5) 5
abnormalities, multiple - diagnostic imaging (4) 4
abridged index medicus (4) 4
age (4) 4
alleles (4) 4
amino acid sequence (4) 4
ataxia (4) 4
cells, cultured (4) 4
cerebellum - diagnostic imaging (4) 4
cilia (4) 4
deletion (4) 4
dna copy number variations (4) 4
exome (4) 4
eye abnormalities - diagnostic imaging (4) 4
fibroblasts - metabolism (4) 4
fibroblasts - pathology (4) 4
gastroenterology & hepatology (4) 4
gene deletion (4) 4
identification (4) 4
infant, newborn (4) 4
kidney diseases, cystic - diagnostic imaging (4) 4
medicine, experimental (4) 4
neurodevelopmental disorders (4) 4
original articles (4) 4
retina - diagnostic imaging (4) 4
risk factors (4) 4
seizures (4) 4
smith-magenis syndrome - genetics (4) 4
urology & nephrology (4) 4
base sequence (3) 3
biochemistry (3) 3
care and treatment (3) 3
cell biology (3) 3
cognitive ability (3) 3
deoxyribonucleic acid--dna (3) 3
encephalopathy (3) 3
enzymes (3) 3
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Methods, ISSN 1548-7091, 08/2015, Volume 12, Issue 9, pp. 885 - 892
Journal Article
BMC CANCER, ISSN 1471-2407, 04/2019, Volume 19, Issue 1, pp. 357 - 357
Background: Osteosarcoma is the most common malignant bone tumor in children. Survival remains poor among histologically poor responders, and there is a need... 
SURVIVAL | PROGNOSTIC-FACTORS | Whole genome sequencing | Childhood cancers | TOXICITY | POLYMORPHISM | Drug resistance | IFOSFAMIDE | CHEMOTHERAPY | ETOPOSIDE | ONCOLOGY | Osteosarcoma | EXTREMITY | Genetics | EXPRESSION | Pharmacogenomics | Haplotypes | Usage | Genetic research | Genetic aspects | Research | Nucleotide sequencing | Drug therapy | DNA sequencing
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 257 - 266
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 1, pp. 54 - 65
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, pp. 521 - 529
Journal Article
Allergy, Asthma and Clinical Immunology, ISSN 1710-1484, 05/2019, Volume 15, Issue 1, pp. 32 - 4
BackgroundHereditary angioedema (HAE) is a potentially life-threatening group of conditions that is often underdiagnosed or misdiagnosed. As HAE is typically... 
Diagnostic yield | Hereditary angioedema | Clinical sequencing | Angioedema | Differential diagnosis | PLG | Genetic testing | Plasminogen | Personalized medicine | Nextgen sequencing | ALLERGY | IMMUNOLOGY | Angioneurotic edema | Genotype | Genetic aspects | Diagnosis | Identification and classification | Health aspects | Genetic screening | Methods | Edema | Pain | Laboratories | Genes | Families & family life | Genomes | Mutation | Patients | Abdomen
Journal Article