X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (69) 69
index medicus (45) 45
female (41) 41
male (38) 38
genetics & heredity (32) 32
infant (28) 28
child, preschool (21) 21
clinical neurology (21) 21
neurosciences (21) 21
magnetic resonance imaging (19) 19
syndrome (19) 19
infant, newborn (18) 18
brain (17) 17
child (17) 17
microcephaly (17) 17
mutation (17) 17
microcephaly - genetics (16) 16
phenotype (16) 16
brain - pathology (15) 15
adolescent (14) 14
adult (14) 14
epilepsy (14) 14
microcephaly - pathology (13) 13
pediatrics (12) 12
seizures (12) 12
abnormal genitalia (11) 11
brain - abnormalities (11) 11
genetics (11) 11
mutations (11) 11
animals (10) 10
cortical development (10) 10
lissencephaly (10) 10
proteins (10) 10
abnormal gyral patterns (8) 8
abnormalities, multiple - genetics (8) 8
gene (8) 8
linked mental-retardation (8) 8
pathology (8) 8
polymicrogyria (8) 8
abnormal gyral pattern (7) 7
abnormal neuronal migration (7) 7
abnormalities, multiple - pathology (7) 7
cerebral cortex - pathology (7) 7
fatal outcome (7) 7
galloway-mowat syndrome (7) 7
genes (7) 7
genetic aspects (7) 7
malformations (7) 7
neuronal migration (7) 7
pregnancy (7) 7
siblings (7) 7
age (6) 6
cerebral cortical size (6) 6
cortex (6) 6
developmental delay (6) 6
expression (6) 6
genotype (6) 6
medicine (6) 6
medicine, research & experimental (6) 6
mental-retardation (6) 6
microcephaly - diagnosis (6) 6
neurology (6) 6
neurons (6) 6
pedigree (6) 6
abnormalities, multiple - diagnosis (5) 5
arx (5) 5
brain research (5) 5
cell biology (5) 5
cell movement - genetics (5) 5
cerebral cortex - abnormalities (5) 5
consanguinity (5) 5
mcph (5) 5
mitotic spindle (5) 5
nephrotic syndrome (5) 5
nerve tissue proteins - genetics (5) 5
nervous system (5) 5
neuroimaging (5) 5
neurons - pathology (5) 5
tubulin - genetics (5) 5
young adult (5) 5
abnormal eye-movements (4) 4
absent corpus-callosum (4) 4
agenesis of corpus callosum (4) 4
ambiguous genitalia (4) 4
anisotropy (4) 4
apoptosis (4) 4
article (4) 4
brain - embryology (4) 4
case-control studies (4) 4
cell migration (4) 4
cerebellum (4) 4
cerebral cortex (4) 4
chromosome deletion (4) 4
congenital muscular-dystrophy (4) 4
corpus callosum (4) 4
corpus callosum - pathology (4) 4
corpus-callosum (4) 4
cortical dysplasia (4) 4
defects (4) 4
developmental disabilities - genetics (4) 4
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1875 - 1881
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2885 - 2896
The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth... 
hypogenesis of corpus callosum | retinal pigmentation | chilblains | abnormal gyral pattern | microdontia | U4atac snRNA | pigmentary disorder | microcephalic osteodysplastic primordial dwarfism I (MOPD I) | fair skin | vasculopathy | Vasculopathy | Chilblains | Microdontia | Microcephalic osteodysplastic primordial dwarfism I (MOPD I) | Pigmentary disorder | Retinal pigmentation | Hypogenesis of corpus callosum | Abnormal gyral pattern | Fair skin | CEPHALOSKELETAL DYSPLASIA | ANOMALIES | DEVELOPMENTAL DISORDER | TAYBI-LINDER-SYNDROME | CONGENITAL FAMILIAL DWARFISM | PCNT GENE | GENETICS & HEREDITY | SECKEL-SYNDROME | OF-THE-LITERATURE | hypo-genesis of corpus callosum | MANIFESTATIONS | Osteochondrodysplasias - pathology | Microcephaly - genetics | Humans | Child, Preschool | Pigmentation Disorders - pathology | Fetal Growth Retardation - genetics | Infant | Male | Developmental Disabilities - genetics | Pregnancy Trimester, Third | Developmental Disabilities - pathology | Osteochondrodysplasias - genetics | Agenesis of Corpus Callosum - genetics | Microcephaly - pathology | Female | Dwarfism - pathology | Infant, Newborn | Siblings | Genotype | Agenesis of Corpus Callosum - pathology | Fetal Growth Retardation - pathology | Pigmentation Disorders - genetics | RNA, Small Nuclear - analysis | Pregnancy | Dwarfism - genetics | Pedigree | Adolescent | Physical Examination | Consanguinity | Mutation | Hair | Growth rate | Retina | Birth | Hemorrhage | Pigmentation | snRNA | Corpus callosum | Dwarfism | Microencephaly | Vascular diseases | Biopsy | Bone dysplasia | Skeleton | Skin | Age | Melanin
Journal Article
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2009, Volume 73, Issue 12, pp. 962 - 969
Journal Article