X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (207) 207
Publication (23) 23
Book / eBook (4) 4
Book Chapter (3) 3
Conference Proceeding (1) 1
Patent (1) 1
Streaming Audio (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (105) 105
index medicus (91) 91
female (66) 66
male (56) 56
genetics & heredity (44) 44
mutation (44) 44
adult (37) 37
animals (36) 36
research (29) 29
biochemistry & molecular biology (26) 26
genetic aspects (26) 26
menkes disease (24) 24
middle aged (23) 23
copper-transporting atpases (22) 22
health aspects (22) 22
adenosine triphosphatases - genetics (21) 21
denmark (21) 21
gene (20) 20
menkes kinky hair syndrome - genetics (20) 20
protein (19) 19
cation transport proteins - genetics (18) 18
child (18) 18
genotype (18) 18
medicine (18) 18
molecular sequence data (18) 18
adolescent (17) 17
article (17) 17
disease (17) 17
aged (16) 16
analysis (16) 16
medical and health sciences (16) 16
medicin och hälsovetenskap (16) 16
mice (16) 16
phenotype (16) 16
child, preschool (15) 15
copper (15) 15
diagnosis (15) 15
base sequence (14) 14
genetics (14) 14
journal article (14) 14
identification (13) 13
neurosciences (13) 13
physiological aspects (13) 13
risk factors (13) 13
amino acid sequence (12) 12
copper - metabolism (12) 12
genes (12) 12
infant (12) 12
microbiology (12) 12
mutations (12) 12
prevalence (12) 12
cells, cultured (11) 11
dna mutational analysis (11) 11
atp7a (10) 10
exons (10) 10
metabolism (10) 10
polymerase chain reaction (10) 10
cell biology (9) 9
medicine, research & experimental (9) 9
menkes kinky hair syndrome - diagnosis (9) 9
public, environmental & occupational health (9) 9
studies (9) 9
toxicology (9) 9
cells (8) 8
children (8) 8
cohort studies (8) 8
dk/atira/pure/researchoutput/pubmedpublicationtype/d016428 (8) 8
enzymes (8) 8
glucose - metabolism (8) 8
obesity (8) 8
pedigree (8) 8
phosphorylation (8) 8
pregnancy (8) 8
proteins (8) 8
sequence analysis, dna (8) 8
adenosine triphosphatase (7) 7
alleles (7) 7
basic medicine (7) 7
biotechnology & applied microbiology (7) 7
endocrinology & metabolism (7) 7
expression (7) 7
gene deletion (7) 7
infant, newborn (7) 7
medical genetics (7) 7
medicinska och farmaceutiska grundvetenskaper (7) 7
menkes syndrome (7) 7
patients (7) 7
phenylketonuria (7) 7
polymerase chain reaction - methods (7) 7
research article (7) 7
resistance (7) 7
risk (7) 7
science (7) 7
sensitivity and specificity (7) 7
surgery (7) 7
swine (7) 7
treatment outcome (7) 7
young adult (7) 7
abridged index medicus (6) 6
adenosine triphosphatases - metabolism (6) 6
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


European Journal of Human Genetics, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1646 - 1651
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in... 
GENE-MUTATIONS | DUPLICATIONS | IDENTIFY | ALLELES | MECHANISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | FREQUENCY | GENETICS & HEREDITY | END | PATIENT | PREVALENCE | IDENTIFICATION | Breakpoints | USH2A protein | Congenital diseases | Retinitis pigmentosa | Genes | Otolaryngology | Hearing impairment | Investigations | Hereditary diseases | Retinitis | Vestibular system | Mutation | Deoxyribonucleic acid--DNA
Journal Article
Epilepsia, ISSN 0013-9580, 2014, Volume 55, Issue 12, pp. 2017 - 2027
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 3107 - 3120
Parkinsonism and attention deficit hyperactivity disorder (ADHD) are widespread brain disorders that involve disturbances of dopaminergic signaling. The... 
MEDICINE, RESEARCH & EXPERIMENTAL | SEQUENCE VARIATION | C-TERMINUS | GENE | DEFICIT HYPERACTIVITY DISORDER | DISEASE | NEUROTRANSMITTER SODIUM SYMPORTERS | BINDING-SITE | MONOAMINE TRANSPORTERS | CONFORMATIONAL DYNAMICS | OUTWARD-OPEN | Xenopus | Dopamine Plasma Membrane Transport Proteins - metabolism | Brain - diagnostic imaging | Parkinsonian Disorders - complications | Humans | Tomography, Emission-Computed, Single-Photon | Molecular Sequence Data | Dopamine Plasma Membrane Transport Proteins - chemistry | Male | Positron-Emission Tomography | Mutation, Missense | Sodium - metabolism | Brain - metabolism | Parkinsonian Disorders - metabolism | Attention Deficit Disorder with Hyperactivity - metabolism | DNA Mutational Analysis | HEK293 Cells | Attention Deficit Disorder with Hyperactivity - complications | Adult | Female | Parkinsonian Disorders - genetics | Dopamine - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Oocytes - metabolism | Mutant Proteins - genetics | Models, Molecular | Recombinant Proteins - chemistry | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Sequence Homology, Amino Acid | Animals | Attention Deficit Disorder with Hyperactivity - genetics | Pedigree | Mutant Proteins - chemistry | Protein Conformation | Amino Acid Substitution | Cohort Studies | Parkinson's disease | Genetic variation | Attention-deficit hyperactivity disorder | Development and progression | Genetic aspects | Identification and classification | Membrane proteins | Attention deficit disorder | Autism | Medical research | Mutation
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1730 - 1738
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1750 - 1750
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1750 - 1750
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1646 - 1651
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in... 
Gene Duplication | Usher Syndromes - genetics | Exons | Chromosome Breakpoints | Extracellular Matrix Proteins - genetics | Gene Deletion | Humans | Denmark | Cadherins - genetics
Journal Article