| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers
|
Siri, Laura
|
|
2014
|
15 |
2 |
p. 101-106
|
artikel
|
| 2 |
Assessment of microRNA-related SNP effects in the 3′ untranslated region of the IL22RA2 risk locus in multiple sclerosis
|
Lill, Christina M.
|
|
2014
|
15 |
2 |
p. 129-134
|
artikel
|
| 3 |
Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue
|
Heck, Melanie Vanessa
|
|
2014
|
15 |
2 |
p. 135-144
|
artikel
|
| 4 |
Erratum to: Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in the TUBB4A gene
|
Blumkin, Lubov
|
|
2014
|
15 |
2 |
p. 115
|
artikel
|
| 5 |
Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy
|
Ohba, Chihiro
|
|
2014
|
15 |
2 |
p. 93
|
artikel
|
| 6 |
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
|
Blumkin, Lubov
|
|
2014
|
15 |
2 |
p. 107-113
|
artikel
|
| 7 |
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
|
Egger, Gerald
|
|
2014
|
15 |
2 |
p. 117-127
|
artikel
|
| 8 |
Large APP locus duplication in a sporadic case of cerebral haemorrhage
|
Lladó, Albert
|
|
2014
|
15 |
2 |
p. 145-149
|
artikel
|
| 9 |
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration
|
Clot, Fabienne
|
|
2014
|
15 |
2 |
p. 95-100
|
artikel
|
| 10 |
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy
|
Ohba, Chihiro
|
|
2013
|
15 |
2 |
p. 85-92
|
artikel
|
| 11 |
Reply to: The many faces of TUBB4A mutations
|
Blumkin, Lubov
|
|
2014
|
15 |
2 |
p. 83
|
artikel
|
| 12 |
The many faces of TUBB4A mutations
|
Lohmann, Katja
|
|
2014
|
15 |
2 |
p. 81-82
|
artikel
|
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