X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (13) 13
humans (10) 10
male (6) 6
care and treatment (5) 5
genomics (5) 5
management (5) 5
mutation (5) 5
oncology (5) 5
pediatrics (5) 5
aged (4) 4
article (4) 4
diagnosis (4) 4
emergency medicine (4) 4
inborn errors of metabolism (4) 4
middle aged (4) 4
abridged index medicus (3) 3
adult (3) 3
association (3) 3
disease management (3) 3
female (3) 3
genetics & heredity (3) 3
medicine, research & experimental (3) 3
metastasis (3) 3
microsatellite instability (3) 3
mutations (3) 3
risk (3) 3
risk factors (3) 3
tumors (3) 3
acute disease - therapy (2) 2
adolescent (2) 2
carriers (2) 2
child (2) 2
children (2) 2
deficiency (2) 2
deoxyribonucleic acid--dna (2) 2
dna repair (2) 2
dna repair - genetics (2) 2
genes (2) 2
genetic aspects (2) 2
genetic predisposition to disease (2) 2
genetic testing (2) 2
germ-line mutation (2) 2
guidelines (2) 2
health aspects (2) 2
hyperammonemia (2) 2
lynch syndrome (2) 2
men (2) 2
neoplasm metastasis - genetics (2) 2
original (2) 2
original article (2) 2
pd-1 blockade (2) 2
prostate (2) 2
prostate cancer (2) 2
prostatic neoplasms - genetics (2) 2
protein (2) 2
standards (2) 2
young adult (2) 2
acquired-resistance (1) 1
actins - genetics (1) 1
actionable mutations (1) 1
activation (1) 1
acute disease (1) 1
acute metabolic decompensation (1) 1
adenomatous polyposis coli (1) 1
adrenoleukodystrophy (1) 1
african americans - genetics (1) 1
age (1) 1
age factors (1) 1
aged, 80 and over (1) 1
aggressiveness (1) 1
algorithms (1) 1
amino acid metabolism, inborn errors - diagnosis (1) 1
amino acid metabolism, inborn errors - therapy (1) 1
aminophylline (1) 1
animals (1) 1
antigen-presenting cells (1) 1
aortic aneurysm - diagnosis (1) 1
aortic aneurysm - genetics (1) 1
aortic aneurysm - pathology (1) 1
aortic aneurysms (1) 1
apoptosis (1) 1
asthma (1) 1
asthma in children (1) 1
ataxia-telangiectasia (1) 1
atm mutations (1) 1
benzoate (1) 1
biochemistry (1) 1
biochemistry & molecular biology (1) 1
biogenesis disorders (1) 1
bioinformatics (1) 1
biopsy (1) 1
branched-chain amino acids (1) 1
brca1 (1) 1
brca1 protein (1) 1
brca2 protein (1) 1
breast-cancer (1) 1
btla protein (1) 1
cancer (1) 1
cancer heritability (1) 1
cancer immunotherapy (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


The New England Journal of Medicine, ISSN 0028-4793, 08/2016, Volume 375, Issue 5, pp. 443 - 453
Journal Article
Nature, ISSN 0028-0836, 11/2016, Volume 540, Issue 7631, pp. 114 - 118
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 10/2018, Volume 128, Issue 10, pp. 4441 - 4453
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 05/2019, Volume 37, Issue 15_suppl, pp. 1508 - 1508
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 05/2018, Volume 36, Issue 15_suppl, pp. 1515 - 1515
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 310 - 319
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families)... 
Zellweger syndrome | genotype/phenotype correlation | peroxisomal disorder | VLCFA | founder mutation | DIAGNOSIS | BIOGENESIS DISORDERS | ADRENOLEUKODYSTROPHY | IDENTIFICATION | ZELLWEGER SPECTRUM | DEFICIENCY | GENOMICS | CLINICAL-MANIFESTATIONS | BIOCHEMISTRY | GENETICS & HEREDITY | MUTATIONS | Peroxisomes | Phenotypes | Spastic paraparesis | Epilepsy | Substantia alba | Fatty acids | Survival | Genotypes | Reductase
Journal Article
Pediatric Emergency Care, ISSN 0749-5161, 06/2018, Volume 34, Issue 6, pp. e115 - e119
Journal Article
Pediatric Emergency Care, ISSN 0749-5161, 02/2017, Volume 33, Issue 2, pp. 142 - 146
Journal Article
Pediatric Emergency Care, ISSN 0749-5161, 01/2018, Volume 34, Issue 1, pp. 64 - 67
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 05/2017, Volume 35, Issue 15_suppl, pp. 1500 - 1500
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 05/2017, Volume 35, Issue 15_suppl, pp. e13027 - e13027
Journal Article
Pediatric Emergency Care, ISSN 0749-5161, 04/2017, Volume 33, Issue 4, pp. 296 - 301
ABSTRACTInborn errors of metabolism (IEMs) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually... 
inborn errors of metabolism | MANAGEMENT | EMERGENCY MEDICINE | carnitine disorders | COA DEHYDROGENASE-DEFICIENCY | PEDIATRICS | fatty acid oxidation | EXERCISE | CHILDREN | Emergency Medicine | Carnitine - deficiency | Oxidation-Reduction | Humans | Disease Management | Metabolism, Inborn Errors - epidemiology | Early Diagnosis | Fatty Acids - metabolism
Journal Article
Journal Article