Thema
Journal Article
30
Research Support, Non-U.S. Gov't
22
Case Reports
10
Research Support, N.I.H., Extramural
6
Diagnostic flow chart
4
Massively parallel sequencing
4
Pattern recognition
4
Vienna Bone and Growth Center
4
Whole exome sequencing in skeletal disorders
4
Basal ganglia degeneration
3
Dystonia
3
EC 2.4.1.-
3
Exome sequencing
3
Infantile neurodegeneration
3
Mediator complex
3
intellectual disability
3
short stature
3
9007-49-2
2
DNA
2
Disaccharides
2
EC 2.8.2.-
2
EC 3.6.1.-
2
Homeodomain Proteins
2
Letter
2
N-Acetylgalactosaminyltransferases
2
NIPBL
2
Proteins
2
SCAR5
2
Sulfotransferases
2
Transcription Factors
2
WDR73
2
basal ganglia
2
cerebellar atrophy
2
chondroitin sulfate N-acetylgalactosaminyltransferase-1
2
cohesin
2
dermatan-4-sulfotransferase-1
2
glycosaminoglycan
2
mosaic
2
optic atrophy
2
panel sequencing
2
precision medicine
2
proteoglycan
2
retinopathy
2
2-hydroxyglutarate dehydrogenase
1
24967-94-0
1
4-Hydroxyphenylpyruvate Dioxygenase
1
570
1
63224-90-8
1
789U1901C5
1
85-32-5
1
mehr ...