| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility
|
Cox, Hannah C.
|
|
2012
|
13 |
3 |
p. 261-266
|
artikel
|
| 2 |
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
|
Dufke, Claudia
|
|
2012
|
13 |
3 |
p. 215-227
|
artikel
|
| 3 |
A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B
|
Meng, Xianfang
|
|
2012
|
13 |
3 |
p. 251-260
|
artikel
|
| 4 |
A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A
|
Park, Su-Yeon
|
|
2012
|
13 |
3 |
p. 275-280
|
artikel
|
| 5 |
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type
|
Taira, Makiko
|
|
2012
|
13 |
3 |
p. 237-243
|
artikel
|
| 6 |
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions
|
Kehrer-Sawatzki, Hildegard
|
|
2012
|
13 |
3 |
p. 229-236
|
artikel
|
| 7 |
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide
|
Mancini, Cecilia
|
|
2012
|
13 |
3 |
p. 205-214
|
artikel
|
| 8 |
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
|
O’Callaghan, María del Mar
|
|
2012
|
13 |
3 |
p. 245-250
|
artikel
|
| 9 |
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
|
Guven, Ayse
|
|
2012
|
13 |
3 |
p. 189-194
|
artikel
|
| 10 |
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas
|
Melean, German
|
|
2012
|
13 |
3 |
p. 267-274
|
artikel
|
| 11 |
TRPV4 mutations in children with congenital distal spinal muscular atrophy
|
Fiorillo, Chiara
|
|
2012
|
13 |
3 |
p. 195-203
|
artikel
|
| 12 |
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease
|
Schulte, Eva C.
|
|
2012
|
13 |
3 |
p. 281-285
|
artikel
|
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