| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
|
Bueno, M.Rita Passos
|
|
1995
|
4 |
7 |
p. 1163-1167
|
artikel
|
| 2 |
A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3–q11.2
|
Kobayashi, Hisashi
|
|
1995
|
4 |
7 |
p. 1213-1216
|
artikel
|
| 3 |
A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame)
|
Matsuda, Miho
|
|
1995
|
4 |
7 |
p. 1187-1191
|
artikel
|
| 4 |
Author index
|
|
|
1995
|
4 |
7 |
p. 1241-1241
|
artikel
|
| 5 |
A yeast assay for functional detection of mutations in the human cystathionine β-synthase gene
|
kruger, Warren D.
|
|
1995
|
4 |
7 |
p. 1155-1161
|
artikel
|
| 6 |
Corrigendum
|
|
|
1995
|
4 |
7 |
p. 1241-1241
|
artikel
|
| 7 |
Double mutant alleles: are they rare?
|
Savov, Alexey
|
|
1995
|
4 |
7 |
p. 1169-1171
|
artikel
|
| 8 |
Erratum
|
|
|
1995
|
4 |
7 |
p. 1241-1241
|
artikel
|
| 9 |
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
|
Takiyama, Y.
|
|
1995
|
4 |
7 |
p. 1137-1146
|
artikel
|
| 10 |
Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development
|
Schmitt, Ina
|
|
1995
|
4 |
7 |
p. 1173-1182
|
artikel
|
| 11 |
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
|
Koiwai, Osamu
|
|
1995
|
4 |
7 |
p. 1183-1186
|
artikel
|
| 12 |
Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability
|
Wöhrle, Doris
|
|
1995
|
4 |
7 |
p. 1147-1153
|
artikel
|
| 13 |
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
|
Kolluri, Rikki
|
|
1995
|
4 |
7 |
p. 1119-1126
|
artikel
|
| 14 |
Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
|
Naylor, Jennifer A.
|
|
1995
|
4 |
7 |
p. 1217-1224
|
artikel
|
| 15 |
Localisation of a gene for chondrocalcinosis to chromosome 5p
|
Hughes, Anne E.
|
|
1995
|
4 |
7 |
p. 1225-1228
|
artikel
|
| 16 |
Mapping of genes predisposing to idiopathic generalized epilepsy
|
Zara, Federico
|
|
1995
|
4 |
7 |
p. 1201-1207
|
artikel
|
| 17 |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
|
Park, Woo-Jin
|
|
1995
|
4 |
7 |
p. 1229-1233
|
artikel
|
| 18 |
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
|
Knappskog, Per M.
|
|
1995
|
4 |
7 |
p. 1209-1212
|
artikel
|
| 19 |
The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients
|
Schloesser, Manfred
|
|
1995
|
4 |
7 |
p. 1235-1237
|
artikel
|
| 20 |
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells
|
Talbot, C.Conover Jr
|
|
1995
|
4 |
7 |
p. 1193-1199
|
artikel
|
| 21 |
Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
|
Enayat, Z.E.
|
|
1995
|
4 |
7 |
p. 1239-1240
|
artikel
|
| 22 |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia
|
Derry, Jonathan M.J.
|
|
1995
|
4 |
7 |
p. 1127-1135
|
artikel
|
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