| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse
|
Lloyd, Sarah E.
|
|
2009
|
11 |
2 |
p. 185-191
|
artikel
|
| 2 |
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
|
Zanni, Ginevra
|
|
2009
|
11 |
2 |
p. 251-255
|
artikel
|
| 3 |
Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC
|
DuBose, Amanda J.
|
|
2009
|
11 |
2 |
p. 145-151
|
artikel
|
| 4 |
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia
|
Diehl, Beate
|
|
2010
|
11 |
2 |
p. 261-265
|
artikel
|
| 5 |
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis
|
Kirby, Janine
|
|
2009
|
11 |
2 |
p. 217-225
|
artikel
|
| 6 |
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene
|
Thomsen, Bo
|
|
2009
|
11 |
2 |
p. 175-183
|
artikel
|
| 7 |
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10
|
Keren, Boris
|
|
2009
|
11 |
2 |
p. 273-274
|
artikel
|
| 8 |
Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3)
|
Bettencourt, Conceição
|
|
2009
|
11 |
2 |
p. 193-202
|
artikel
|
| 9 |
Intratumoral patterns of clonal evolution in gliomas
|
Vital, Ana Luísa
|
|
2009
|
11 |
2 |
p. 227-239
|
artikel
|
| 10 |
Isolated eyelid closure myotonia in two families with sodium channel myotonia
|
Stunnenberg, B. C.
|
|
2009
|
11 |
2 |
p. 257-260
|
artikel
|
| 11 |
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease
|
Soehn, Anne S.
|
|
2009
|
11 |
2 |
p. 203-215
|
artikel
|
| 12 |
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
|
Dekomien, Gabriele
|
|
2009
|
11 |
2 |
p. 163-174
|
artikel
|
| 13 |
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
|
Bahi-Buisson, Nadia
|
|
2009
|
11 |
2 |
p. 241-249
|
artikel
|
| 14 |
Suggestive evidence on chromosomes 2 and 19 for HTR1A-independent linkage of genes to major depression
|
Abkevich, Victor
|
|
2009
|
11 |
2 |
p. 271-272
|
artikel
|
| 15 |
The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection
|
Wawrzik, Michaela
|
|
2009
|
11 |
2 |
p. 153-161
|
artikel
|
| 16 |
X-linked CMT: genes and gene loci in an Australian cohort
|
Brewer, Megan Hwa
|
|
2010
|
11 |
2 |
p. 267-269
|
artikel
|
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