X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (45) 45
index medicus (43) 43
female (27) 27
male (26) 26
mutation (25) 25
genetic aspects (21) 21
genetics & heredity (20) 20
genetics (17) 17
adult (12) 12
pedigree (12) 12
phenotype (12) 12
analysis (10) 10
article (10) 10
child (10) 10
child, preschool (10) 10
clinical neurology (9) 9
genes (9) 9
proteins (9) 9
animals (8) 8
biotechnology & applied microbiology (8) 8
brain (8) 8
infant, newborn (8) 8
neurosciences (8) 8
research (8) 8
adolescent (7) 7
brain - pathology (7) 7
gene mutations (7) 7
genetic disorders (7) 7
health aspects (7) 7
medical genetics (7) 7
medicine, research & experimental (7) 7
mice (7) 7
middle aged (7) 7
mutations (7) 7
pediatrics (7) 7
dna mutational analysis (6) 6
gene expression (6) 6
genetic predisposition to disease (6) 6
infant (6) 6
medical ethics (6) 6
syndrome (6) 6
brain - abnormalities (5) 5
consanguinity (5) 5
cortical development (5) 5
expression (5) 5
gene (5) 5
genomes (5) 5
nervous system diseases (5) 5
turkey (5) 5
aged (4) 4
alleles (4) 4
brain - metabolism (4) 4
cerebral cortex - metabolism (4) 4
cytogenetics (4) 4
diagnosis (4) 4
enzymes (4) 4
epilepsy (4) 4
exome (4) 4
genes, recessive (4) 4
genetic research (4) 4
genomics (4) 4
genotype (4) 4
homozygote (4) 4
medical colleges (4) 4
mental retardation (4) 4
microcephaly - genetics (4) 4
neurons (4) 4
neurophysiology (4) 4
report (4) 4
young adult (4) 4
zebrafish (4) 4
abnormalities (3) 3
abnormalities, multiple (3) 3
abnormalities, multiple - genetics (3) 3
aged, 80 and over (3) 3
ataxia (3) 3
brain diseases (3) 3
cardiac & cardiovascular systems (3) 3
cells (3) 3
children (3) 3
chromosome banding (3) 3
defects (3) 3
deoxyribonucleic acid--dna (3) 3
developmental disabilities - genetics (3) 3
disease (3) 3
exome - genetics (3) 3
fish (3) 3
frequency (3) 3
heterogeneity (3) 3
identification (3) 3
in situ hybridization, fluorescence (3) 3
intellectual disability (3) 3
intellectual disability - genetics (3) 3
internal medicine (3) 3
karyotyping (3) 3
magnetic resonance imaging (3) 3
medical education (3) 3
medicine, general & internal (3) 3
membrane proteins - genetics (3) 3
microcephaly - pathology (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Web Resource
Nature Genetics, ISSN 1061-4036, 08/2018, Volume 50, Issue 8, p. 1093
Biallelic truncating mutations in CTNNA2, encoding [alpha]N-catenin, cause a new pachygyria syndrome associated with actin regulation and ARP2 and ARP3... 
Research | Neurons | Cell migration | Cell adhesion molecules
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S29 - S29
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 08/2010, Volume 25, Issue 8, pp. 1003 - 1005
Sjoegren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or... 
Journal Article
Cell, ISSN 0092-8674, 12/2016, Volume 167, Issue 6, pp. 1481 - 1494.e18
Journal Article
Science, ISSN 0036-8075, 3/2013, Volume 339, Issue 6123, pp. 1077 - 1080
Journal Article
Nature, ISSN 0028-0836, 09/2010, Volume 467, Issue 7312, pp. 207 - 210
Journal Article
Cell, ISSN 0092-8674, 04/2014, Volume 157, Issue 3, pp. 651 - 663
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1980, Volume 56, Issue 5, p. 332
BackgroundPutative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 468 - 474
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial... 
NEURONAL MIGRATION | DYSTROGLYCANOPATHIES | POPULATION | GENES | GENETICS & HEREDITY | LAMINATION | CORTICAL DEVELOPMENT | RADIAL GLIA | DYSTROPHIES | EXPRESSION | DEFICIENCY | Neurons - pathology | Sequence Deletion | Neuroglia - pathology | Humans | Cerebral Cortex - pathology | Male | Walker-Warburg Syndrome - genetics | Brain - abnormalities | Muscular Dystrophies - genetics | Basement Membrane - pathology | Encephalocele - metabolism | Cerebral Cortex - metabolism | Brain - metabolism | Nervous System Malformations - metabolism | Walker-Warburg Syndrome - metabolism | Female | Neurons - metabolism | Nervous System Malformations - genetics | Encephalocele - genetics | Walker-Warburg Syndrome - pathology | Genetic Predisposition to Disease | Muscular Dystrophies - metabolism | Nervous System Malformations - pathology | Cerebellum - metabolism | Muscular Dystrophies - pathology | Basement Membrane - metabolism | Cerebellum - pathology | Laminin - genetics | Homozygote | Encephalocele - pathology | Brain - pathology | Neuroglia - metabolism | Brain | Gene mutations | Neurons | Neuroglia | Abnormalities | Physiological aspects | Causes of | Genetic aspects | Research | Medical colleges | Neurosciences | Genetic disorders | Laminin | Medical genetics | Genetic research | Eye diseases | Mutation | Muscular dystrophy | Cells | Brain diseases | Index Medicus | Report
Journal Article
Journal Article
Neuro-Oncology, ISSN 1522-8517, 10/2015, Volume 17, Issue 10, pp. 1356 - 1364
Journal Article
Neuron, ISSN 0896-6273, 12/2014, Volume 84, Issue 6, pp. 1226 - 1239
Journal Article