| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia–parkinsonism
|
Kawarai, Toshitaka
|
|
2013
|
14 |
2 |
p. 167-169
|
artikel
|
| 2 |
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
|
Riant, Florence
|
|
2013
|
14 |
2 |
p. 133-141
|
artikel
|
| 3 |
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
|
Auranen, Mari
|
|
2013
|
14 |
2 |
p. 123-132
|
artikel
|
| 4 |
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype
|
Tiffin, Heather R.
|
|
2013
|
14 |
2 |
p. 113-121
|
artikel
|
| 5 |
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
|
Paciorkowski, Alex R.
|
|
2013
|
14 |
2 |
p. 99-111
|
artikel
|
| 6 |
Natural history of neurofibromatosis type 2 with onset before the age of 1 year
|
Ruggieri, Martino
|
|
2013
|
14 |
2 |
p. 89-98
|
artikel
|
| 7 |
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
|
Nogueira, Célia
|
|
2013
|
14 |
2 |
p. 153-160
|
artikel
|
| 8 |
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings
|
Kong, S. W.
|
|
2013
|
14 |
2 |
p. 143-152
|
artikel
|
| 9 |
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms
|
Cannas, Antonino
|
|
2013
|
14 |
2 |
p. 161-166
|
artikel
|
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