X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (526) 526
Publication (70) 70
Book Chapter (5) 5
Patent (5) 5
Conference Proceeding (4) 4
Book / eBook (3) 3
Book Review (3) 3
Magazine Article (1) 1
Reference (1) 1
Report (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (288) 288
index medicus (187) 187
male (159) 159
genetics & heredity (138) 138
female (130) 130
biochemistry & molecular biology (91) 91
mutation (83) 83
glycosylation (80) 80
adult (67) 67
animals (61) 61
genetics (59) 59
congenital disorders of glycosylation - genetics (50) 50
gene (50) 50
middle aged (46) 46
research (42) 42
mutations (41) 41
molecular sequence data (36) 36
genetic aspects (34) 34
pedigree (33) 33
phenotype (33) 33
infant (32) 32
amino acid sequence (30) 30
phosphotransferases - genetics (29) 29
adolescent (28) 28
article (27) 27
endocrinology & metabolism (27) 27
muscle, skeletal - metabolism (27) 27
mice (26) 26
aged (25) 25
child (25) 25
congenital disorders (25) 25
medicine, research & experimental (25) 25
rats (25) 25
analysis (24) 24
expression (24) 24
genetic disorders (24) 24
diagnosis (23) 23
genotype (23) 23
physiological aspects (23) 23
base sequence (22) 22
cell biology (22) 22
disease (22) 22
dna mutational analysis (22) 22
identification (22) 22
proteins (22) 22
young adult (22) 22
cdg (21) 21
genetic testing (21) 21
n-glycosylation (21) 21
genes (20) 20
lipids (20) 20
metabolism (20) 20
research article (20) 20
child, preschool (19) 19
congenital disorders of glycosylation (19) 19
congenital disorders of glycosylation - diagnosis (19) 19
exercise (19) 19
risk factors (19) 19
abridged index medicus (18) 18
alleles (18) 18
deficiency (18) 18
infant, newborn (18) 18
membrane proteins - genetics (18) 18
mutation - genetics (18) 18
patents (17) 17
carbohydrate metabolism, inborn errors - genetics (16) 16
human skeletal-muscle (16) 16
insulin resistance (16) 16
journal article (16) 16
mitochondria (16) 16
patients (16) 16
polymerase chain reaction (16) 16
syndrome (16) 16
biophysics (15) 15
congenital disorder (15) 15
europe (15) 15
golgi apparatus - metabolism (15) 15
life sciences (15) 15
medicine & public health (15) 15
radiology, nuclear medicine & medical imaging (15) 15
rats, wistar (15) 15
chromosome mapping (14) 14
deficient glycoprotein syndrome (14) 14
haplotypes (14) 14
heterozygote (14) 14
homeostasis (14) 14
internal medicine (14) 14
multidisciplinary sciences (14) 14
neurosciences (14) 14
phosphotransferases - metabolism (14) 14
skeletal-muscle (14) 14
cells, cultured (13) 13
congenital disorders of glycosylation - enzymology (13) 13
genomics (13) 13
homozygote (13) 13
medicine (13) 13
muscles (13) 13
sequence analysis, dna (13) 13
biochemistry (12) 12
cardiac & cardiovascular systems (12) 12
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


The British Journal of Radiology, ISSN 0007-1285, 11/2019, p. 20181019
Objective: The aim of this phantom study was to investigate the effect of scan parameters and noise suppression techniques on the minimum radiation dose for... 
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 11/2019, Volume 27, Issue 11, pp. 1757 - 1760
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and... 
MUTATIONS | IGE | BIOCHEMISTRY & MOLECULAR BIOLOGY | IMMUNODEFICIENCY | DEFICIENCY | GENETICS & HEREDITY | Risk assessment | Glycosylation
Journal Article
EBioMedicine, ISSN 2352-3964, 11/2019, Volume 49, pp. 318 - 330
Type 2 diabetes patients and individuals at risk of developing diabetes are characterized by metabolic inflexibility and disturbed glucose homeostasis. Low... 
L-carnitine | Insulin sensitivity | Acetylcarnitine | Hyperinsulinemic-euglycemic clamp | Metabolic flexibility | Impaired glucose tolerance
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 11/2019, Volume 20, Issue 11, pp. 693 - 701
Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe... 
Molecular Biology | Genetics(clinical) | Genetics | Genomes
Journal Article
JCI INSIGHT, ISSN 2379-3708, 11/2019, Volume 4, Issue 21
BACKGROUND. Insulin resistance results from impaired skeletal muscle glucose transport/phosphorylation, linked to augmented lipid availability. Despite greater... 
PROLONGED SEVERE EXERCISE | MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE CAPACITY | GLUT4 EXPRESSION | METABOLISM | PHOSPHORYLATION | FREE FATTY-ACIDS | SENSITIVITY | HUMAN SKELETAL-MUSCLE | INDUCED INSULIN-RESISTANCE | DIACYLGLYCEROLS
Journal Article
Platelets, ISSN 0953-7104, 10/2019, Volume 30, Issue 7, pp. 927 - 930
Systemic inflammation and hypoxia frequently occur simultaneously in critically ill patients, and are both associated with platelet activation and... 
hypoxia | systemic inflammation | platelet function | Coagulation | endotoxin | THROMBIN GENERATION | HYPOBARIC HYPOXIA | ACTIVATION | HEMATOLOGY | CELL BIOLOGY
Journal Article
Birth : Issues in Perinatal Care, ISSN 0730-7659, 2019, Volume 46, Issue 2, pp. 262 - 269
BACKGROUND: Some women decline recommended care during pregnancy and birth. This can cause friction between client and provider. METHODS: A designated... 
HOME BIRTH | CHOICE | NURSING | PEDIATRICS | EXPERIENCE | NARRATIVES | HOMEBIRTH | MOTIVATIONS | OBSTETRICS & GYNECOLOGY | Analysis | Childbirth | Pregnancy | Medical personnel | Compromises | Womens health | Pregnant women | Perinatal | Patient satisfaction | Interdisciplinary approach | Preferences | Birth plans | Childbirth & labor
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 05/2019, Volume 116, Issue 20, pp. 9865 - 9870
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 5, pp. 1181 - 1188
Purpose: PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is... 
PMM2-CDG | CDG severity scale | coagulation | long-term follow-up | liver function test | GLYCOSYLATION TYPE-IA | GENETICS & HEREDITY | CONGENITAL DISORDERS | SPECTRUM | CDG-IA | long-term followup | FIBROBLASTS
Journal Article
International Journal Of Cardiovascular Imaging, ISSN 1569-5794, 03/2019, Volume 35, Issue 3, pp. 539 - 547
Journal Article
The International Journal of Cardiovascular Imaging, ISSN 1569-5794, 03/2019, Volume 35, Issue 3, pp. 539 - 547
The purpose of this study was to evaluate the effect of temporal sampling rate in dynamic CT myocardial perfusion imaging (CTMPI) on myocardial blood flow... 
Comparative Study | Perfusion imaging | Computed tomography | Journal Article | Cardiac imaging techniques
Journal Article
Water International, ISSN 0250-8060, 02/2019, Volume 44, Issue 2, pp. 188 - 205
This article explores the encounter between two contrasting visions of how the hydrosocial territory of the Elgin Valley of South Africa is, and should be,... 
water pollution | South Africa | rural-urban struggles | fruit exports | Hydrosocial territories | STRUGGLES | ENGINEERING, CIVIL | AGRICULTURE | WATER RESOURCES | LAND-REFORM | JUSTICE | Economics | Territory | Farmers | Crop production | Economic importance | Political institutions | Exports and imports | Land | Social unrest | Pollution | Disputes | Historical account | Water pollution | Inequality
Journal Article
02/2019, Volume 121, Issue 2
Magazine Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2019, Volume 42, Issue 1, pp. 5 - 28
Journal Article
European Journal of Radiology, ISSN 0720-048X, 01/2019, Volume 110, pp. 175 - 180
To assess the intermodel agreement of different tracer kinetic models to determine myocardial blood flow (MBF) and their diagnostic accuracy in coronary artery... 
Myocardium | Computed tomography | Perfusion imaging | Tracer kinetic models | ABSOLUTE | GLOBAL QUANTIFICATION | ACCURACY | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CT imaging | Tracers (Biology) | Cardiac patients | SPECT imaging | Coronary heart disease | Medical imaging equipment | Blood flow
Journal Article