| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
|
Pozzi, Federico Emanuele
|
|
|
25 |
3 |
p. 215-223
|
artikel
|
| 2 |
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability
|
Saima,
|
|
|
25 |
3 |
p. 179-191
|
artikel
|
| 3 |
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
|
Cesaroni, Carlo Alberto
|
|
|
25 |
3 |
p. 287-291
|
artikel
|
| 4 |
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
|
Teutonico, Federica
|
|
|
25 |
3 |
p. 281-286
|
artikel
|
| 5 |
Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center
|
Stefanova, Elka
|
|
|
25 |
3 |
p. 193-200
|
artikel
|
| 6 |
Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis
|
Ojo, Taiwo Ooreoluwa
|
|
|
25 |
3 |
p. 263-275
|
artikel
|
| 7 |
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
|
Bazgir, Afsaneh
|
|
|
25 |
3 |
p. 225-232
|
artikel
|
| 8 |
Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis
|
Barbosa, Lucas Cunha
|
|
|
25 |
3 |
p. 249-262
|
artikel
|
| 9 |
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
|
Ozkalayci, Hande
|
|
|
25 |
3 |
p. 201-213
|
artikel
|
| 10 |
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
|
Radziwonik-Fraczyk, Wiktoria
|
|
|
25 |
3 |
p. 233-247
|
artikel
|
| 11 |
The Apo gene's genetic variants: hidden role in Asian vascular risk
|
Besin, Valentinus
|
|
|
25 |
3 |
p. 157-164
|
artikel
|
| 12 |
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
|
Palombo, Flavia
|
|
|
25 |
3 |
p. 277-280
|
artikel
|
| 13 |
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
|
Brankovic, Marija
|
|
|
25 |
3 |
p. 165-177
|
artikel
|
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