X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (9) 9
genetics & heredity (8) 8
genetic aspects (5) 5
mutation (5) 5
child (4) 4
female (4) 4
humans (4) 4
pedigree (4) 4
phenotypes (4) 4
biomedicine (3) 3
child, preschool (3) 3
exome (3) 3
gene function (3) 3
gene mutations (3) 3
human genetics (3) 3
male (3) 3
metabolic diseases (3) 3
microcephaly (3) 3
molecular medicine (3) 3
phenotype (3) 3
adenosine-deaminase (2) 2
adolescent (2) 2
analysis (2) 2
consanguinity (2) 2
deficiency (2) 2
discovery (2) 2
diseases (2) 2
fibroblasts (2) 2
gene (2) 2
gene expression regulation (2) 2
genes, recessive (2) 2
genetics (2) 2
homozygote (2) 2
intellectual disability (2) 2
microencephaly (2) 2
mutations (2) 2
post-transcription (2) 2
proteins (2) 2
report (2) 2
research (2) 2
sequence analysis, dna (2) 2
yeast (2) 2
23s ribosomal-rna (1) 1
3 ' utr (1) 1
3' untranslated regions (1) 1
3'-utr (1) 1
3'utr (1) 1
3′utr (1) 1
adrenoleukodystrophy (1) 1
adult (1) 1
alleles (1) 1
anticodon loop (1) 1
architecture (1) 1
article (1) 1
association (1) 1
ataxia (1) 1
au rich elements (1) 1
au-rich elements (1) 1
autozygome (1) 1
base sequence (1) 1
base stacking (1) 1
binding sites (1) 1
biochemistry (1) 1
biogenesis disorders (1) 1
biology (1) 1
biotechnology & applied microbiology (1) 1
birth (1) 1
bulbous ciliary tip (1) 1
can/nup214 (1) 1
cancer (1) 1
candidate disease genes (1) 1
carrier proteins - genetics (1) 1
cell line, tumor (1) 1
cellular stress (1) 1
cep135 (1) 1
cerebellar ataxia (1) 1
cerebellum (1) 1
ciliary length (1) 1
clinical neurology (1) 1
clinical-manifestations (1) 1
clonal deletion (1) 1
cntrl (1) 1
cognition (1) 1
cognition - physiology (1) 1
cohort studies (1) 1
congenital defects (1) 1
congenital diseases (1) 1
consanguineous families (1) 1
cornea (1) 1
cornea - metabolism (1) 1
cornea - pathology (1) 1
corneal dystrophies, hereditary - genetics (1) 1
corneal dystrophies, hereditary - metabolism (1) 1
corneal dystrophies, hereditary - pathology (1) 1
cortex (1) 1
development and progression (1) 1
diagnosis (1) 1
disease (1) 1
disorders (1) 1
dna binding proteins (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Genetics, ISSN 0340-6717, 3/2019, Volume 138, Issue 3, pp. 221 - 229
Nuclear pore complex (NPC) is a fundamental component of the nuclear envelope and is key to the nucleocytoplasmic transport. Mutations in several NUP genes... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | NUCLEOPORIN | TRANSPORT | DOMAIN | PROTEIN | NUCLEAR-PORE COMPLEX | GENETICS & HEREDITY | ARCHITECTURE | ASSOCIATION | CAN/NUP214 | Encephalopathy | Analysis | Genetic aspects | Neonates | Phenotypes | Nucleoporins | Microencephaly | Fibroblasts | Microcephaly | Linkage analysis
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2017, Volume 81, Issue 6, pp. 890 - 897
Journal Article
Genome Biology, ISSN 1474-7596, 07/2017, Volume 18, Issue 1, pp. 144 - 10
Journal Article
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
Human mutation, ISSN 1059-7794, 07/2019
The wobble position in the anticodon loop of transfer ribonucleic acid (tRNA) is subject to numerous posttranscriptional modifications. In particular,... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 731 - 737
Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we... 
SHH | ciliary length | oral-facial-digital syndrome | bulbous ciliary tip | Joubert syndrome | PROTEINS | GENETICS & HEREDITY | Genetic research | Genetic aspects | Research | Gene mutations | Risk factors | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 831 - 836
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.