nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
|
Thust, Steffi |
|
|
23 |
2 |
p. 91-102 |
artikel |
2 |
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation
|
Miyamoto, Sachiko |
|
|
23 |
2 |
p. 129-135 |
artikel |
3 |
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
|
Iacono, Salvatore |
|
|
23 |
2 |
p. 157-165 |
artikel |
4 |
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
|
Chouery, Eliane |
|
|
23 |
2 |
p. 85-90 |
artikel |
5 |
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
|
Cheung, Anthony |
|
|
23 |
2 |
p. 115-127 |
artikel |
6 |
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort
|
Nassir, Nasna |
|
|
23 |
2 |
p. 137-149 |
artikel |
7 |
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
|
Ozyilmaz, Berk |
|
|
23 |
2 |
p. 103-114 |
artikel |
8 |
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
|
Macintosh, Julia |
|
|
23 |
2 |
p. 151-156 |
artikel |