nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Death of neuronal clusters contributes to variance of age at onset in Huntington’s disease
|
Čajavec, Branka |
|
2006 |
7 |
1 |
p. 21-25 |
artikel |
2 |
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil
|
Chien, Hsin F. |
|
2005 |
7 |
1 |
p. 13-19 |
artikel |
3 |
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient
|
Lucioli, Simona |
|
2005 |
7 |
1 |
p. 51-57 |
artikel |
4 |
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
|
Blair, Marcia A. |
|
2006 |
7 |
1 |
p. 47-50 |
artikel |
5 |
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
|
Venturin, Marco |
|
2006 |
7 |
1 |
p. 59-66 |
artikel |
6 |
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1
|
Combes, Patricia |
|
2006 |
7 |
1 |
p. 31-37 |
artikel |
7 |
Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis
|
Poirier, K. |
|
2005 |
7 |
1 |
p. 39-46 |
artikel |
8 |
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease
|
Metzger, Silke |
|
2005 |
7 |
1 |
p. 27-30 |
artikel |
9 |
Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson’s disease
|
Moran, L. B. |
|
2005 |
7 |
1 |
p. 1-11 |
artikel |
10 |
Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson’s disease
|
Moran, L. B. |
|
|
7 |
1 |
p. 1-11 |
artikel |