| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay
|
Ikemoto, Satoru
|
|
|
42 |
8 |
p. 603-606
|
artikel
|
| 2 |
CALL FOR ABSTRACTS FOR ORAL AND POSTER PRESENTATIONS
|
|
|
|
42 |
8 |
p. iii
|
artikel
|
| 3 |
Contents
|
|
|
|
42 |
8 |
p. OBC
|
artikel
|
| 4 |
Cover
|
|
|
|
42 |
8 |
p. IBC
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
42 |
8 |
p. IFC
|
artikel
|
| 6 |
Effect of total callosotomy on KCNQ2-related intractable epilepsy
|
Yamamoto, Ayako
|
|
|
42 |
8 |
p. 612-616
|
artikel
|
| 7 |
Executive dysfunction in medication-naïve children with ADHD: A multi-modal fNIRS and EEG study
|
Kaga, Yoshimi
|
|
|
42 |
8 |
p. 555-563
|
artikel
|
| 8 |
Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family
|
Hashmi, Jamil A.
|
|
|
42 |
8 |
p. 587-593
|
artikel
|
| 9 |
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report
|
Takase, Chihiro
|
|
|
42 |
8 |
p. 607-611
|
artikel
|
| 10 |
Lacosamide for children with paroxysmal kinesigenic dyskinesia
|
Furukawa, Gen
|
|
|
42 |
8 |
p. 617-620
|
artikel
|
| 11 |
Multiple cerebral cysts are another possible feature of Jacobsen syndrome
|
Dowa, Yuri
|
|
|
42 |
8 |
p. 626
|
artikel
|
| 12 |
Neonatal neuron specific enolase, a sensitive biochemical marker of neuronal damage, is increased in preeclampsia: A retrospective cohort study
|
Liao, Jiaying
|
|
|
42 |
8 |
p. 564-571
|
artikel
|
| 13 |
13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement
|
Miura, Masaki
|
|
|
42 |
8 |
p. 581-586
|
artikel
|
| 14 |
Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease
|
Kılıç, Betül
|
|
|
42 |
8 |
p. 572-580
|
artikel
|
| 15 |
Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan
|
Okamoto, Kentaro
|
|
|
42 |
8 |
p. 594-602
|
artikel
|
| 16 |
White matter abnormality in Jacobsen syndrome assessed by serial MRI
|
Fujino, Shuhei
|
|
|
42 |
8 |
p. 621-625
|
artikel
|
Tijdschrift beschrijving