X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (3) 3
mutation (3) 3
ataxia (2) 2
ataxia rating-scale (2) 2
child (2) 2
clinical neurology (2) 2
congenital diseases (2) 2
congenital disorders of glycosylation (2) 2
deficiency (2) 2
family (2) 2
female (2) 2
genetics & heredity (2) 2
glycosylation (2) 2
humans (2) 2
lipodystrophy (2) 2
magnetic resonance imaging (2) 2
male (2) 2
patients (2) 2
pediatrics (2) 2
phosphomannomutase (2) 2
abnormalities (1) 1
acetazolamide (1) 1
acetazolamide - pharmacology (1) 1
acetazolamide - therapeutic use (1) 1
adolescent (1) 1
adult (1) 1
age (1) 1
antithrombin (1) 1
asthenia (1) 1
atrophy (1) 1
automated facial analysis software (1) 1
automation (1) 1
bicarbonate (1) 1
bicarbonates (1) 1
calcium channels (1) 1
carbonic anhydrase inhibitors - pharmacology (1) 1
carbonic anhydrase inhibitors - therapeutic use (1) 1
cerebellar diseases - diagnosis (1) 1
cerebellar diseases - drug therapy (1) 1
cerebellar diseases - genetics (1) 1
cerebellar disorders (1) 1
cerebellar syndrome (1) 1
cerebellum (1) 1
child, preschool (1) 1
children (1) 1
clinical trials (1) 1
coagulation factors (1) 1
cognitive ability (1) 1
confidence intervals (1) 1
congenital disorder (1) 1
congenital disorders of glycosylation - diagnosis (1) 1
congenital disorders of glycosylation - drug therapy (1) 1
congenital disorders of glycosylation - genetics (1) 1
csnk2a1 (1) 1
diagnosis (1) 1
disorders (1) 1
dysarthria (1) 1
dysmorphology (1) 1
epilepsy (1) 1
episodic ataxia (1) 1
genotype & phenotype (1) 1
genotypes (1) 1
glycosylation - drug effects (1) 1
ia cdg-ia (1) 1
image processing (1) 1
intellectual disability - genetics (1) 1
mental retardation (1) 1
metabolism (1) 1
mutations (1) 1
neurodevelopmental disorders (1) 1
neuroimaging (1) 1
neurosciences (1) 1
nipples (1) 1
okur‐chung neurodevelopmental syndrome (1) 1
olfactory bulb (1) 1
pattern recognition (1) 1
phenotype (1) 1
phenotypes (1) 1
phosphomannomutase deficiency pmm2-cdg (1) 1
phosphotransferases - deficiency (1) 1
phosphotransferases - genetics (1) 1
photographs (1) 1
pituitary (1) 1
pituitary gland duplication (1) 1
pmm2-cdg (1) 1
prothrombin (1) 1
randomization (1) 1
safety (1) 1
short communication (1) 1
single-blind method (1) 1
spectrum (1) 1
strabismus (1) 1
stroke (1) 1
syndrome (1) 1
therapy (1) 1
treatment outcome (1) 1
vertebrae (1) 1
vesicular transport proteins - genetics (1) 1
vesicular transport proteins - physiology (1) 1
young adult (1) 1
more...
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, 01/2020, Volume 182, Issue 1, pp. 20 - 24
Okur‐Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by... 
CSNK2A1 | Okur‐Chung neurodevelopmental syndrome | pituitary gland duplication | Vertebrae | Magnetic resonance imaging | Pituitary | Olfactory bulb | Mutation | Neurodevelopmental disorders | Mental retardation
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2019, Volume 85, Issue 5, pp. 740 - 751
Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2018, Volume 49, Issue 6, pp. 408 - 413
Abstract Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale... 
Short Communication | cerebellar syndrome | magnetic resonance imaging | PMM2-CDG | PHOSPHOMANNOMUTASE DEFICIENCY PMM2-CDG | ATROPHY | ATAXIA RATING-SCALE | DISORDERS | PEDIATRICS | CLINICAL NEUROLOGY | congenital disorders of glycosylation | dysarthria
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.