nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy
|
Verhoeven, Willem M.A. |
|
2012 |
55 |
5 |
p. 358-361 4 p. |
artikel |
2 |
Another cause of vaccine encephalopathy: A case of Angelman syndrome
|
Novy, Jan |
|
2012 |
55 |
5 |
p. 338-341 4 p. |
artikel |
3 |
Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities
|
Galizia, Elizabeth C. |
|
2012 |
55 |
5 |
p. 342-348 7 p. |
artikel |
4 |
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia
|
Fergelot, Patricia |
|
2012 |
55 |
5 |
p. 313-318 6 p. |
artikel |
5 |
Clinical review of genetic epileptic encephalopathies
|
Noh, Grace J. |
|
2012 |
55 |
5 |
p. 281-298 18 p. |
artikel |
6 |
De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine
|
O’Leary, Ryan E. |
|
2012 |
55 |
5 |
p. 349-353 5 p. |
artikel |
7 |
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome
|
Schossig, Anna |
|
2012 |
55 |
5 |
p. 319-322 4 p. |
artikel |
8 |
GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder
|
Graham Jr., John M. |
|
2012 |
55 |
5 |
p. 332-334 3 p. |
artikel |
9 |
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies
|
Tavyev Asher, Y. Jane |
|
2012 |
55 |
5 |
p. 299-306 8 p. |
artikel |
10 |
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
|
Valetto, Angelo |
|
2012 |
55 |
5 |
p. 362-366 5 p. |
artikel |
11 |
Neurological findings in incontinentia pigmenti; a review
|
Meuwissen, Marije E.C. |
|
2012 |
55 |
5 |
p. 323-331 9 p. |
artikel |
12 |
Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome
|
Filloux, Francis M. |
|
2012 |
55 |
5 |
p. 367-373 7 p. |
artikel |
13 |
Preface
|
Graham Jr., John M. |
|
2012 |
55 |
5 |
p. 279-280 2 p. |
artikel |
14 |
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
|
Noh, Grace J. |
|
2012 |
55 |
5 |
p. 354-357 4 p. |
artikel |
15 |
Ring chromosome 20
|
Daber, Robert D. |
|
2012 |
55 |
5 |
p. 381-387 7 p. |
artikel |
16 |
Seizures and X-linked intellectual disability
|
Stevenson, Roger E. |
|
2012 |
55 |
5 |
p. 307-312 6 p. |
artikel |
17 |
Stimulus-induced drop episodes in Coffin–Lowry syndrome
|
Hahn, Jin S. |
|
2012 |
55 |
5 |
p. 335-337 3 p. |
artikel |
18 |
The ring 14 syndrome
|
Zollino, Marcella |
|
2012 |
55 |
5 |
p. 374-380 7 p. |
artikel |