| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients
|
Hsiao, Meng-Chang
|
|
2017
|
18 |
3 |
p. 169-174
|
artikel
|
| 2 |
Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship
|
Punchaichira, Toyanji Joseph
|
|
2017
|
18 |
3 |
p. 155-168
|
artikel
|
| 3 |
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
|
Shahrour, Maher Awni
|
|
2017
|
18 |
3 |
p. 135-139
|
artikel
|
| 4 |
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3
|
Murthy, Megha N.
|
|
2017
|
18 |
3 |
p. 121-133
|
artikel
|
| 5 |
Male patients affected by mosaic PCDH19 mutations: five new cases
|
Lange, I. M. de
|
|
2017
|
18 |
3 |
p. 147-153
|
artikel
|
| 6 |
Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot
|
King, Margaret K.
|
|
2017
|
18 |
3 |
p. 179-181
|
artikel
|
| 7 |
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
|
Carecchio, Miryam
|
|
2017
|
18 |
3 |
p. 175-178
|
artikel
|
| 8 |
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation
|
Leshinsky-Silver, Esther
|
|
2017
|
18 |
3 |
p. 141-146
|
artikel
|
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