| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5
|
Matsukawa, Takashi
|
|
2011
|
12 |
3 |
p. 259-261
|
artikel
|
| 2 |
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy
|
Fyfe, John C.
|
|
2011
|
12 |
3 |
p. 223-232
|
artikel
|
| 3 |
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients
|
Castellotti, Barbara
|
|
2011
|
12 |
3 |
p. 193-201
|
artikel
|
| 4 |
Audiogenic seizure proneness requires the contribution of two susceptibility loci in mice
|
Jawahar, M. Catharine
|
|
2011
|
12 |
3 |
p. 253-257
|
artikel
|
| 5 |
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel
|
Rehman, Shoaib ur
|
|
2011
|
12 |
3 |
p. 247-251
|
artikel
|
| 6 |
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia
|
Quadri, Marialuisa
|
|
2011
|
12 |
3 |
p. 203-209
|
artikel
|
| 7 |
Call for participation in the neurogenetics consortium within the Human Variome Project
|
Haworth, Andrea
|
|
2011
|
12 |
3 |
p. 169-173
|
artikel
|
| 8 |
Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weight
|
Ka, Sojeong
|
|
2011
|
12 |
3 |
p. 211-221
|
artikel
|
| 9 |
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
|
Pizzuti, Antonio
|
|
2011
|
12 |
3 |
p. 233-240
|
artikel
|
| 10 |
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion
|
Zanni, Ginevra
|
|
2011
|
12 |
3 |
p. 241-245
|
artikel
|
| 11 |
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
|
Arrabal, Luisa
|
|
2011
|
12 |
3 |
p. 183-191
|
artikel
|
| 12 |
Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC)
|
Müller, Ulrich
|
|
2011
|
12 |
3 |
p. 175-181
|
artikel
|
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