| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia
|
Kolicheski, Ana L.
|
|
2016
|
18 |
1 |
p. 39-47
|
artikel
|
| 2 |
Circular RNAs—one of the enigmas of the brain
|
Filippenkov, Ivan B.
|
|
2016
|
18 |
1 |
p. 1-6
|
artikel
|
| 3 |
DRD2 C957T polymorphism is associated with improved 6-month verbal learning following traumatic brain injury
|
Yue, John K.
|
|
2016
|
18 |
1 |
p. 29-38
|
artikel
|
| 4 |
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson’s disease revealed different epigenetic patterns in peripheral blood mononuclear cells
|
Kaut, Oliver
|
|
2016
|
18 |
1 |
p. 7-22
|
artikel
|
| 5 |
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
|
Cao, Michelangelo
|
|
2016
|
18 |
1 |
p. 69
|
artikel
|
| 6 |
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
|
Shahrour, Maher Awni
|
|
2016
|
18 |
1 |
p. 71
|
artikel
|
| 7 |
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy
|
Fattal-Valevski, Aviva
|
|
2017
|
18 |
1 |
p. 57-61
|
artikel
|
| 8 |
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
|
Schon, Katherine
|
|
2017
|
18 |
1 |
p. 49-55
|
artikel
|
| 9 |
Mosaicism in ATP1A3-related disorders: not just a theoretical risk
|
Hully, Marie
|
|
2016
|
18 |
1 |
p. 23-28
|
artikel
|
| 10 |
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
|
Manole, Andreea
|
|
2016
|
18 |
1 |
p. 63-67
|
artikel
|
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