| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
|
Norgren, Nina
|
|
2011
|
12 |
2 |
p. 137-143
|
artikel
|
| 2 |
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease
|
Kabzińska, Dagmara
|
|
2011
|
12 |
2 |
p. 145-153
|
artikel
|
| 3 |
C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development
|
Endele, Sabine
|
|
2011
|
12 |
2 |
p. 155-163
|
artikel
|
| 4 |
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features
|
Rademacher, Nils
|
|
2011
|
12 |
2 |
p. 165-167
|
artikel
|
| 5 |
Investigating the genetics of visual processing, function and behaviour in zebrafish
|
Renninger, Sabine L.
|
|
2011
|
12 |
2 |
p. 97-116
|
artikel
|
| 6 |
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)
|
Juncos, Jorge L.
|
|
2011
|
12 |
2 |
p. 123-135
|
artikel
|
| 7 |
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1
|
Ishiura, Hiroyuki
|
|
2011
|
12 |
2 |
p. 117-121
|
artikel
|
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