| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Angelman syndrome: how many genes to remain silent?
|
Rougeulle, Claire
|
|
1998
|
1 |
4 |
p. 229-237
|
artikel
|
| 2 |
A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease
|
Lao, J. I.
|
|
1998
|
1 |
4 |
p. 293-296
|
artikel
|
| 3 |
Friedreich's ataxia presenting as adult-onset spastic paraparesis
|
Gates, Peter C.
|
|
1998
|
1 |
4 |
p. 297-299
|
artikel
|
| 4 |
Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease
|
Einum, David D.
|
|
1998
|
1 |
4 |
p. 289-292
|
artikel
|
| 5 |
Identification of a novel missense mutation of the SMNT gene in two siblings with spinal muscular atrophy
|
Wang, C. H.
|
|
1998
|
1 |
4 |
p. 273-276
|
artikel
|
| 6 |
Isolation and characterization of trinucleotide repeat containing partial transcripts in human spinal cord
|
Kaushik, Narendra
|
|
1998
|
1 |
4 |
p. 239-247
|
artikel
|
| 7 |
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene
|
Gilbert, J. R.
|
|
1998
|
1 |
4 |
p. 267-272
|
artikel
|
| 8 |
Paternal age is a risk factor for Alzheimer disease in the absence of a major gene
|
Bertram, L.
|
|
1998
|
1 |
4 |
p. 277-280
|
artikel
|
| 9 |
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene
|
Forrest, S. M.
|
|
1998
|
1 |
4 |
p. 253-257
|
artikel
|
| 10 |
The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia
|
Wittekindt, Oliver
|
|
1998
|
1 |
4 |
p. 259-265
|
artikel
|
| 11 |
The mutation properties of spinal and bulbar muscular atrophy disease alleles
|
Grewal, R. P.
|
|
1998
|
1 |
4 |
p. 249-252
|
artikel
|
| 12 |
The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain
|
Mayer, Anette
|
|
1998
|
1 |
4 |
p. 281-288
|
artikel
|
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