| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
|
Harssel, J. J. T. van
|
|
2013
|
14 |
1 |
p. 23-34
|
artikel
|
| 2 |
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2
|
Choi, B.-O.
|
|
2012
|
14 |
1 |
p. 35-42
|
artikel
|
| 3 |
Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y
|
Yusuf, Mohammed
|
|
2012
|
14 |
1 |
p. 63-70
|
artikel
|
| 4 |
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype
|
Quattrocchi, Carlo C.
|
|
2012
|
14 |
1 |
p. 77-83
|
artikel
|
| 5 |
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis
|
Lal, Dennis
|
|
2013
|
14 |
1 |
p. 85-87
|
artikel
|
| 6 |
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
|
Hsu, Sandy Chan
|
|
2013
|
14 |
1 |
p. 11-22
|
artikel
|
| 7 |
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations
|
Poulton, Cathryn
|
|
2012
|
14 |
1 |
p. 43-51
|
artikel
|
| 8 |
Refining the phenotype associated with MEF2C point mutations
|
Bienvenu, Thierry
|
|
2012
|
14 |
1 |
p. 71-75
|
artikel
|
| 9 |
Splice variants of the Alzheimer’s disease beta-secretase, BACE1
|
Holsinger, R. M. Damian
|
|
2012
|
14 |
1 |
p. 1-9
|
artikel
|
| 10 |
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases
|
Arning, Larissa
|
|
2012
|
14 |
1 |
p. 53-61
|
artikel
|
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