X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (15) 15
humans (14) 14
male (13) 13
female (12) 12
genetics & heredity (9) 9
mutation (9) 9
phenotype (8) 8
adolescent (7) 7
child (6) 6
genetic aspects (6) 6
pedigree (6) 6
adult (5) 5
child, preschool (5) 5
genetics (5) 5
mutations (5) 5
homozygote (4) 4
infant (4) 4
young adult (4) 4
brain - pathology (3) 3
clinical neurology (3) 3
disease (3) 3
dna mutational analysis (3) 3
gene (3) 3
genetic research (3) 3
magnetic resonance imaging (3) 3
medicine (3) 3
mitochondrial dna (3) 3
neurosciences (3) 3
amino acid sequence (2) 2
analysis (2) 2
brain (2) 2
calcium-binding proteins - genetics (2) 2
cerebellum (2) 2
complex (2) 2
consanguinity (2) 2
deficiency (2) 2
development and progression (2) 2
developmental disabilities - genetics (2) 2
diagnosis, differential (2) 2
epilepsy (2) 2
family (2) 2
fetal growth retardation - genetics (2) 2
gene expression (2) 2
gene-expression (2) 2
genes (2) 2
genetic predisposition to disease (2) 2
hair diseases - genetics (2) 2
mental-retardation (2) 2
metabolism, inborn errors - genetics (2) 2
mitochondrial (2) 2
molecular sequence data (2) 2
neurology (2) 2
pediatrics (2) 2
primary research (2) 2
saudi arabia (2) 2
syndromic (2) 2
5' untranslated regions (1) 1
5'-flanking region (1) 1
abnormal karyotype (1) 1
abnormalities, multiple - diagnosis (1) 1
abnormalities, multiple - genetics (1) 1
abridged index medicus (1) 1
acid ceramidase - genetics (1) 1
acidosis, lactic - genetics (1) 1
acidosis, lactic - metabolism (1) 1
alg14 (1) 1
algorithms (1) 1
alleles (1) 1
amino acid metabolism, inborn errors - genetics (1) 1
amino acid substitution (1) 1
and dysequilibrium syndrome (1) 1
angelman (1) 1
animal behavior (1) 1
anomalies (1) 1
apoptosis regulatory proteins - genetics (1) 1
arabs - genetics (1) 1
arthritis, juvenile - genetics (1) 1
articles (1) 1
asah1 (1) 1
atpases associated with diverse cellular activities (1) 1
autism (1) 1
autism spectrum disorders (1) 1
base sequence (1) 1
binding transcription activators (1) 1
biochemistry & molecular biology (1) 1
biochemistry, general (1) 1
biology (1) 1
biomarkers, tumor - chemistry (1) 1
biomarkers, tumor - genetics (1) 1
biotechnology & applied microbiology (1) 1
brain - diagnostic imaging (1) 1
ca8 (1) 1
cadherins - genetics (1) 1
calcium-binding proteins - metabolism (1) 1
carbonate dehydratase (1) 1
carbonic anhydrase viii (1) 1
carboxypeptidases - genetics (1) 1
cdg (1) 1
cdkl5 (1) 1
cell biology (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Annals of Neurology, ISSN 0364-5134, 04/2012, Volume 71, Issue 4, pp. 498 - 508
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2013, Volume 36, Issue 5, pp. 813 - 820
Journal Article
Human genomics, ISSN 1479-7364, 12/2017, Volume 11, Issue 1, pp. 33 - 33
After publication of the article [1], it has been brought to our attention that there is a nomenclature issue with this article. At the time of acceptance, the... 
Journal Article
Human Genomics, ISSN 1473-9542, 03/2017, Volume 11, Issue 1, pp. 28 - 28
Background: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of... 
Vitamin D deficiency | Dysmorphism | Mitochondrial | Syndromic | Angelman | Hypogonadism | DISEASE | GENETICS & HEREDITY | TRANSFER-RNA SYNTHETASES | FAMILY | Index Medicus
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 12/2011, Volume 156, Issue 7, pp. 826 - 834
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 13, pp. 3456 - 3466
Journal Article