| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
|
Flannery, Kyle P.
|
|
|
25 |
4 |
p. 425-433
|
artikel
|
| 2 |
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy
|
Kotioumbé, Mahamadou
|
|
|
25 |
4 |
p. 487-492
|
artikel
|
| 3 |
A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review
|
Postberg, Jan
|
|
|
25 |
4 |
p. 351-366
|
artikel
|
| 4 |
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
|
Shin, Hui Jin
|
|
|
25 |
4 |
p. 471-479
|
artikel
|
| 5 |
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy
|
Colijn, Mark Ainsley
|
|
|
25 |
4 |
p. 405-415
|
artikel
|
| 6 |
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
|
Agha Gholizadeh, Mehdi
|
|
|
25 |
4 |
p. 377-391
|
artikel
|
| 7 |
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
|
Chawla, Tanushree
|
|
|
25 |
4 |
p. 435-469
|
artikel
|
| 8 |
RETRACTED ARTICLE: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China
|
Zhao, Yinglin
|
|
|
25 |
4 |
p. 481-486
|
artikel
|
| 9 |
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin
|
De, Tiyasha
|
|
|
25 |
4 |
p. 393-403
|
artikel
|
| 10 |
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
|
Haj Mohammad Hassani, Behzad
|
|
|
25 |
4 |
p. 417-424
|
artikel
|
| 11 |
The role of gut-derived short-chain fatty acids in Parkinson's disease
|
Saadh, Mohamed J.
|
|
|
25 |
4 |
p. 307-336
|
artikel
|
| 12 |
TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia
|
Xu, Yang
|
|
|
25 |
4 |
p. 367-375
|
artikel
|
| 13 |
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)
|
Carballo-Pacoret, P.
|
|
|
25 |
4 |
p. 293-305
|
artikel
|
| 14 |
Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance
|
Cheng, Hong
|
|
|
25 |
4 |
p. 337-350
|
artikel
|
Tijdschrift beschrijving