X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (180) 180
female (130) 130
male (124) 124
clinical neurology (107) 107
index medicus (91) 91
pediatrics (91) 91
child (75) 75
child, preschool (68) 68
infant (53) 53
adolescent (44) 44
magnetic resonance imaging (43) 43
genetics & heredity (41) 41
epilepsy (40) 40
mutation (38) 38
adult (32) 32
genetic aspects (31) 31
pregnancy (29) 29
neurology (27) 27
phenotype (25) 25
seizures (25) 25
syndrome (25) 25
brain (24) 24
infant, newborn (24) 24
brain - pathology (23) 23
neurosciences (23) 23
pedigree (22) 22
electroencephalography (21) 21
children (20) 20
medical genetics (20) 20
mutation - genetics (20) 20
disease (19) 19
retrospective studies (18) 18
epilepsy - genetics (17) 17
gene (17) 17
intellectual disability - genetics (17) 17
prenatal diagnosis (17) 17
diagnosis (14) 14
mutations (14) 14
ultrasound (14) 14
diagnosis, differential (13) 13
genetics (13) 13
medical colleges (13) 13
ataxia (12) 12
dna mutational analysis (12) 12
encephalopathy (12) 12
gene mutations (12) 12
genes (12) 12
israel (12) 12
anticonvulsants - therapeutic use (11) 11
article (11) 11
genetic disorders (11) 11
obstetrics & gynecology (11) 11
treatment outcome (11) 11
ultrasonography, prenatal (11) 11
abnormalities, multiple - genetics (10) 10
age of onset (10) 10
cohort studies (10) 10
disorders (10) 10
intellectual disability (10) 10
nervous system diseases (10) 10
young adult (10) 10
cerebellum (9) 9
childhood (9) 9
consanguinity (9) 9
developmental disabilities - genetics (9) 9
follow-up studies (9) 9
health aspects (9) 9
human genetics (9) 9
jews - genetics (9) 9
patients (9) 9
siblings (9) 9
age (8) 8
analysis (8) 8
dna, mitochondrial - genetics (8) 8
epilepsy - diagnosis (8) 8
infants (8) 8
mental retardation (8) 8
mental-retardation (8) 8
molecular genetics (8) 8
prenatal-diagnosis (8) 8
prognosis (8) 8
research (8) 8
severity of illness index (8) 8
spasms, infantile - genetics (8) 8
abnormalities (7) 7
abridged index medicus (7) 7
animals (7) 7
anticonvulsants - adverse effects (7) 7
atrophy (7) 7
biomedicine (7) 7
cerebellum - abnormalities (7) 7
developmental disabilities - diagnosis (7) 7
eeg (7) 7
epilepsy - drug therapy (7) 7
features (7) 7
fetus (7) 7
genetic research (7) 7
medicine, research & experimental (7) 7
mice (7) 7
mitochondria (7) 7
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e83 - e83
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2014, Volume 51, Issue 5, pp. 303 - 308
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2011, Volume 70, Issue 6, pp. 974 - 985
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2013, Volume 45, Issue 7, pp. 825 - 830
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 12/2017, Volume 37, Issue 13, pp. 1335 - 1342
Objective To analyze ultrasound (US) and magnetic resonance imaging (MRI) results and developmental outcome in cases of maternal primary cytomegalovirus (CMV)... 
MORTALITY | MANAGEMENT | ULTRASOUND | SEQUELAE | DISEASE | GENETICS & HEREDITY | RISK | CENTRAL-NERVOUS-SYSTEM | FETUSES | LESIONS | CHILDREN | OBSTETRICS & GYNECOLOGY | Cytomegalovirus infections | Usage | Magnetic resonance imaging | Pregnant women | Health aspects | Pregnancy | Urine | Neuroimaging | Brain | Cytomegalovirus | Nuclear magnetic resonance--NMR | Correlation analysis | Fetuses | Abnormalities | Infections | Ultrasound
Journal Article
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, ISSN 0256-7040, 09/2019
Epilepsy and intracranial pressure (ICP) can be interrelated. While shunt malfunction is recognized as a cause of seizures, shunt over-drainage is seldom... 
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Epilepsia, ISSN 0013-9580, 06/2015, Volume 56, Issue 6, pp. 841 - 848
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2012, Volume 158A, Issue 2, pp. 269 - 291
The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to rename the megalencephaly‐capillary malformation syndrome (MCAP;... 
ventriculomegaly | polymicrogyria | mega corpus callosum | connective tissue dysplasia | hydrocephalus | syndactyly | megalencephaly | capillary malformation | polydactyly | cerebellar tonsillar ectopia | Capillary malformation | Megalencephaly | Hydrocephalus | Ventriculomegaly | Connective tissue dysplasia | Polydactyly | Polymicrogyria | Syndactyly | Cerebellar tonsillar ectopia | Mega corpus callosum | PERISYLVIAN POLYMICROGYRIA | MOTOR DEVELOPMENT | GENETICS & HEREDITY | MACROCEPHALY-CUTIS-MARMORATA | MEGA-CORPUS-CALLOSUM | PSYCHOMOTOR RETARDATION | PATIENT | OF-THE-LITERATURE | DIAGNOSTIC-CRITERIA | CONNECTIVE-TISSUE | MARMORATA-TELANGIECTATICA-CONGENITA | Megalencephaly - pathology | Capillaries - pathology | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Hydrocephalus - pathology | Infant | Male | Polydactyly - diagnosis | Syndactyly - pathology | Brain - growth & development | Morphogenesis | Malformations of Cortical Development - diagnosis | Female | Malformations of Cortical Development - pathology | Child | Neuroimaging - methods | Diagnosis, Differential | Hydrocephalus - diagnosis | Connective Tissue Diseases - diagnosis | Megalencephaly - diagnosis | Connective Tissue Diseases - pathology | Megalencephaly - classification | Brain - pathology | Syndactyly - diagnosis | Polydactyly - pathology
Journal Article
Journal Article