X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (43) 43
humans (37) 37
female (29) 29
male (29) 29
mutation (26) 26
genetics & heredity (23) 23
article (21) 21
animals (17) 17
genetic aspects (16) 16
pedigree (14) 14
gene mutations (13) 13
research (13) 13
genes (12) 12
genetics (12) 12
adolescent (11) 11
mice (11) 11
child (10) 10
mutations (10) 10
adult (9) 9
child, preschool (9) 9
epilepsy (9) 9
microcephaly (9) 9
microcephaly - genetics (9) 9
brain (8) 8
neurosciences (8) 8
protein (8) 8
proteins (8) 8
young adult (8) 8
gene (7) 7
genomes (7) 7
health aspects (7) 7
infant (7) 7
neurons (7) 7
clinical neurology (6) 6
disease (6) 6
expression (6) 6
homozygote (6) 6
multidisciplinary sciences (6) 6
research article (6) 6
seizures (6) 6
usage (6) 6
zebrafish (6) 6
association (5) 5
autism (5) 5
chromosome mapping (5) 5
complex (5) 5
encephalopathy (5) 5
genetic linkage (5) 5
intellectual disability (5) 5
magnetic resonance imaging (5) 5
mice, knockout (5) 5
microencephaly (5) 5
phenotype (5) 5
psychiatry (5) 5
report (5) 5
studies (5) 5
variants (5) 5
causes of (4) 4
cell cycle (4) 4
consanguinity (4) 4
convulsions & seizures (4) 4
experiments (4) 4
frameshift mutation (4) 4
genetic disorders (4) 4
genotype & phenotype (4) 4
human immunodeficiency virus--hiv (4) 4
infant, newborn (4) 4
microcephaly - pathology (4) 4
model (4) 4
nervous system diseases (4) 4
neurology (4) 4
phenotypes (4) 4
public, environmental & occupational health (4) 4
risk factors (4) 4
sodium channels (4) 4
youth (4) 4
abridged index medicus (3) 3
acquired immune deficiency syndrome--aids (3) 3
adolescents (3) 3
alleles (3) 3
amino acids (3) 3
analysis (3) 3
atrophy (3) 3
autistic disorder - genetics (3) 3
biochemistry & molecular biology (3) 3
brain - metabolism (3) 3
brain research (3) 3
cataracts (3) 3
cell biology (3) 3
cell line (3) 3
cerebral cortex - embryology (3) 3
cerebral cortex - growth & development (3) 3
children (3) 3
chromosomes (3) 3
cortex (3) 3
de-novo mutations (3) 3
degeneration (3) 3
deoxyribonucleic acid--dna (3) 3
developmental disabilities (3) 3
exome (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Applied Cognitive Psychology, ISSN 0888-4080, 07/2019
Journal Article
Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Journal Article
Science, ISSN 0036-8075, 7/2008, Volume 321, Issue 5886, pp. 218 - 223
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2018, Volume 94, Issue 2, pp. 246 - 251
ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive... 
microcephaly | neurodegeneration | neurogenesis | basal ganglia | ZNF335 | GENETICS & HEREDITY | Nervous system diseases | Hypoplasia | Cerebellum | Basal ganglia | Phenotypes | Microencephaly | Magnetic resonance imaging | Splicing | Brain stem | Microcephaly | Neurogenesis | Ganglia
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1260 - 1264
Journal Article
Neuron, ISSN 0896-6273, 12/2014, Volume 84, Issue 6, pp. 1240 - 1257
Journal Article
Human Mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1348 - 1354
Aminoacyl‐transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl‐tRNA synthetase (AARS)... 
microcephaly | hypomyelination | transfer RNA | aminoacylation defect | AARS | MARIE-TOOTH-DISEASE | NEUROPATHY | AARS MUTATION | ATROPHY | GENETICS & HEREDITY | MEDICINE | BINDING | Spastic Paraplegia, Hereditary - genetics | Lennox Gastaut Syndrome - diagnosis | Microcephaly - genetics | Humans | Child, Preschool | Infant | Electroencephalography | Amino Acid Sequence - genetics | Spasms, Infantile - genetics | Aminoacylation - genetics | Lennox Gastaut Syndrome - genetics | Charcot-Marie-Tooth Disease - genetics | Alanine-tRNA Ligase - genetics | Microcephaly - pathology | Female | Protein Biosynthesis - genetics | Spasms, Infantile - complications | Spastic Paraplegia, Hereditary - pathology | Siblings | Microcephaly - diagnostic imaging | Spasms, Infantile - diagnostic imaging | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Whole Exome Sequencing | Spasms, Infantile - pathology | Lennox Gastaut Syndrome - pathology | Spastic Paraplegia, Hereditary - complications | Lennox Gastaut Syndrome - complications | Medical research | Career development | Nervous system diseases | Neurosciences | Ligases | Encephalopathy | Epilepsy | Medicine, Experimental | Amino acids | Protein biosynthesis | Transfer RNA | Aminoacylation | tRNA | Spasticity | Microcephaly | Ribonucleic acid--RNA | Neurological diseases | Microencephaly | Alanine-tRNA ligase | Charcot-Marie-Tooth disease | Mutation
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 09/2018, Volume 99, Issue 5, pp. 905 - 913.e7
Journal Article
Journal Article