| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder
|
Gelener, Pınar
|
|
|
21 |
3 |
p. 179-186
|
artikel
|
| 2 |
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1
|
Wang, Jianda
|
|
|
21 |
3 |
p. 169-177
|
artikel
|
| 3 |
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients
|
Tantawy, Azza Abdel Gawad
|
|
|
21 |
3 |
p. 159-167
|
artikel
|
| 4 |
Familial analysis reveals rare risk variants for migraine in regulatory regions
|
Techlo, Tanya Ramdal
|
|
|
21 |
3 |
p. 149-157
|
artikel
|
| 5 |
Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease
|
Key, Jana
|
|
|
21 |
3 |
p. 187-203
|
artikel
|
| 6 |
Oligogenicity, C9orf72 expansion, and variant severity in ALS
|
Ross, Jay P.
|
|
|
21 |
3 |
p. 227-242
|
artikel
|
| 7 |
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain
|
van Reij, Roel R. I.
|
|
|
21 |
3 |
p. 205-215
|
artikel
|
| 8 |
Rare copy number variations of planar cell polarity genes are associated with human neural tube defects
|
Tian, Tian
|
|
|
21 |
3 |
p. 217-225
|
artikel
|
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