| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
|
Kojima, Fumikazu
|
|
|
25 |
2 |
p. 149-156
|
artikel
|
| 2 |
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
|
Hakami, Wejdan
|
|
|
25 |
2 |
p. 79-83
|
artikel
|
| 3 |
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
|
Diaw, Sokhna Haissatou
|
|
|
25 |
2 |
p. 141-147
|
artikel
|
| 4 |
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
|
Türkyılmaz, Ayberk
|
|
|
25 |
2 |
p. 119-130
|
artikel
|
| 5 |
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
|
Lin, Zhi-Jian
|
|
|
25 |
2 |
p. 131-139
|
artikel
|
| 6 |
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
|
Safwat, Sylvia
|
|
|
25 |
2 |
p. 93-102
|
artikel
|
| 7 |
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
|
Najafi, Pardis
|
|
|
25 |
2 |
p. 103-117
|
artikel
|
| 8 |
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
|
Falsaperla, Raffaele
|
|
|
25 |
2 |
p. 69-78
|
artikel
|
| 9 |
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
|
Cioffi, Ettore
|
|
|
25 |
2 |
p. 51-67
|
artikel
|
| 10 |
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
|
Kaur, Namanpreet
|
|
|
25 |
2 |
p. 85-91
|
artikel
|
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