| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy
|
Zambonin, J. L.
|
|
2017
|
19 |
1 |
p. 61-65
|
artikel
|
| 2 |
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation
|
Wang, Jing-Yang
|
|
2017
|
19 |
1 |
p. 9-16
|
artikel
|
| 3 |
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis
|
Galatolo, Daniele
|
|
2017
|
19 |
1 |
p. 1-8
|
artikel
|
| 4 |
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth
|
Isohanni, Pirjo
|
|
2018
|
19 |
1 |
p. 49-53
|
artikel
|
| 5 |
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing
|
Spiegler, Stefanie
|
|
2017
|
19 |
1 |
p. 55-59
|
artikel
|
| 6 |
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder
|
Griswold, Anthony J.
|
|
2017
|
19 |
1 |
p. 17-26
|
artikel
|
| 7 |
Monogenic disorders that mimic the phenotype of Rett syndrome
|
Srivastava, Siddharth
|
|
2018
|
19 |
1 |
p. 41-47
|
artikel
|
| 8 |
The contribution of 7q33 copy number variations for intellectual disability
|
Lopes, Fátima
|
|
2017
|
19 |
1 |
p. 27-40
|
artikel
|
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