X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (19) 19
humans (16) 16
male (13) 13
genetics & heredity (12) 12
female (11) 11
mutation (8) 8
child (5) 5
pedigree (5) 5
adolescent (4) 4
child, preschool (4) 4
genetics (4) 4
mutations (4) 4
phenotype (4) 4
abnormalities, multiple - genetics (3) 3
cutis laxa - genetics (3) 3
deoxyribonucleic acid--dna (3) 3
ehlers-danlos syndrome (3) 3
genes (3) 3
genetic aspects (3) 3
infant (3) 3
infant, newborn (3) 3
molecular sequence data (3) 3
proteins (3) 3
proton-translocating atpases - genetics (3) 3
abnormalities, multiple - pathology (2) 2
adult (2) 2
alternative splicing (2) 2
amino acid sequence (2) 2
analysis (2) 2
animals (2) 2
array comparative genomic hybridization (2) 2
article (2) 2
base sequence (2) 2
binding sites (2) 2
cardiac & cardiovascular systems (2) 2
cells, cultured (2) 2
chromosome deletion (2) 2
collagen (2) 2
comorbidity (2) 2
comparative genomic hybridization (2) 2
congenital disorder (2) 2
congenital hip dislocation (2) 2
craniofacial abnormalities - genetics (2) 2
cutis laxa - metabolism (2) 2
cystic fibrosis (2) 2
deficiency (2) 2
deficiency reveals (2) 2
developmental disabilities - genetics (2) 2
dna mutational analysis (2) 2
echocardiography (2) 2
ehlers-danlos syndrome type vii (2) 2
epilepsy (2) 2
exome - genetics (2) 2
exome sequencing (2) 2
exon deletion (2) 2
exon skipping (2) 2
expression (2) 2
family (2) 2
gene (2) 2
gene mutations (2) 2
genomes (2) 2
genotype & phenotype (2) 2
intellectual disability - genetics (2) 2
medical research (2) 2
mental retardation (2) 2
mice (2) 2
multidisciplinary sciences (2) 2
patients (2) 2
procollagen (2) 2
research (2) 2
sequence analysis, dna (2) 2
syndrome (2) 2
transcription factors (2) 2
treatment outcome (2) 2
variants (2) 2
1-q22.1 (1) 1
13q deletion (1) 1
1506 (1) 1
1689 (1) 1
1697 (1) 1
1719 (1) 1
3q34 deletion (1) 1
abnormalities, multiple (1) 1
abnormalities, multiple - embryology (1) 1
abnormalities, multiple - metabolism (1) 1
acceptor site (1) 1
acetylcholine (1) 1
acquired immune deficiency syndrome--aids (1) 1
age (1) 1
age distribution (1) 1
altered glycosylation (1) 1
american-college (1) 1
amino acids (1) 1
amino-acids (1) 1
animal models of human disease (1) 1
anomalies (1) 1
antigens, neoplasm - genetics (1) 1
antigens, neoplasm - metabolism (1) 1
aortic atresia (1) 1
apoptosis (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 516 - 521
Topoisomerase II (TOP2) removes torsional stress from DNA and facilitates gene transcription by introducing transient DNA double-strand breaks (DSBs). Such... 
RECEPTOR-ASSOCIATED FACTORS | CELLS | REPAIR | SPINOCEREBELLAR ATAXIA | TTRAP | GENES | GENETICS & HEREDITY | AXONAL NEUROPATHY | MEDIATED DNA-DAMAGE | PHOSPHODIESTERASE | II-BETA | Seizures - genetics | Humans | Molecular Sequence Data | DNA Breaks, Double-Stranded | Intellectual Disability - genetics | Brain - metabolism | DNA-Binding Proteins - metabolism | Poly-ADP-Ribose Binding Proteins | Chromatin Immunoprecipitation | Microarray Analysis | Base Sequence | Neurons - physiology | Antigens, Neoplasm - metabolism | Ataxia - genetics | Nuclear Proteins - genetics | Real-Time Polymerase Chain Reaction | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | DNA Topoisomerases, Type II - metabolism | Nuclear Proteins - metabolism | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Transcription Factors - metabolism | Homozygote | Exome - genetics | Animals | Fluorescent Antibody Technique | DNA Topoisomerases, Type II - genetics | Mice | Transcription, Genetic - genetics | Genetic aspects | Topoisomerases | Neural circuitry | Genetic transcription | Health aspects | Medical research | Enzymes | Genomes | DNA repair | Experiments | Proteins | Studies | Acquired immune deficiency syndrome--AIDS | Ataxia | Mutation | Age | Deoxyribonucleic acid--DNA | Cancer | Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2015, Volume 167, Issue 5, pp. 1134 - 1141
Journal Article
Scientific Reports, ISSN 2045-2322, 06/2016, Volume 6
X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L-and M-cone... 
Journal Article
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 8, pp. 1261 - 1266
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2006, Volume 79, Issue 2, p. 390
Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or... 
Genotype & phenotype | Pathogens | Congenital diseases | Gene loci | Mutation
Journal Article
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 03/1998, Volume 76, Issue 3, pp. 202 - 212
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1993, Volume 47, Issue 7, pp. 1086 - 1091
Journal Article