| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A member of the caudal family of homeobox genes maps to the X-inactivation centre region of the mouse and human X chromosomes
|
Horn, Jacqueline M.
|
|
1995
|
4 |
6 |
p. 1041-1047
|
artikel
|
| 2 |
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
|
Yulug, Isik G.
|
|
1995
|
4 |
6 |
p. 1101-1104
|
artikel
|
| 3 |
A novel allelic variant of serum amyloic A, SAA1γ: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA– amyloidosis
|
Baba, Satoshi
|
|
1995
|
4 |
6 |
p. 1083-1087
|
artikel
|
| 4 |
Author index
|
|
|
1995
|
4 |
6 |
p. 1117-1117
|
artikel
|
| 5 |
Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue
|
Whiting, Elisabeth J.
|
|
1995
|
4 |
6 |
p. 1063-1072
|
artikel
|
| 6 |
Circulating human factor IX produced in keratin promoter transgenic mice: a feasibility study for gene therapy of haemophilia B
|
Alexander, M.Y.
|
|
1995
|
4 |
6 |
p. 993-999
|
artikel
|
| 7 |
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity
|
Kelsell, David P.
|
|
1995
|
4 |
6 |
p. 1021-1025
|
artikel
|
| 8 |
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la
|
Hwu, Wuh-Liang
|
|
1995
|
4 |
6 |
p. 1095-1096
|
artikel
|
| 9 |
Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient
|
Song, X.Q.
|
|
1995
|
4 |
6 |
p. 1093-1094
|
artikel
|
| 10 |
Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice
|
Sunada, Yoshihide
|
|
1995
|
4 |
6 |
p. 1055-1061
|
artikel
|
| 11 |
Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X; 18)(p11.2;q11.2)-positive synoviaol sarcomas
|
de Leeuw, B.
|
|
1995
|
4 |
6 |
p. 1097-1099
|
artikel
|
| 12 |
Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs
|
Loyer, Magali
|
|
1995
|
4 |
6 |
p. 1035-1039
|
artikel
|
| 13 |
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
|
Wadey, Roy
|
|
1995
|
4 |
6 |
p. 1027-1033
|
artikel
|
| 14 |
Linkage of a gene for dominant non-syndromic deafness to chromosome 19
|
Chen, Achih H.
|
|
1995
|
4 |
6 |
p. 1073-1076
|
artikel
|
| 15 |
Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
|
Hennies, Hans-Christian
|
|
1995
|
4 |
6 |
p. 1015-1020
|
artikel
|
| 16 |
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
|
Carlton, Victoria E.H.
|
|
1995
|
4 |
6 |
p. 1049-1053
|
artikel
|
| 17 |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
|
OIdridge, M.
|
|
1995
|
4 |
6 |
p. 1077-1082
|
artikel
|
| 18 |
The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland
|
Själander, A.
|
|
1995
|
4 |
6 |
p. 1105-1108
|
artikel
|
| 19 |
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
|
Schöls, Ludger
|
|
1995
|
4 |
6 |
p. 1001-1005
|
artikel
|
| 20 |
Two novel insertions in the prion protein gene in patients with lateonset dementia
|
L.Laplanche, J.
|
|
1995
|
4 |
6 |
p. 1109-1111
|
artikel
|
| 21 |
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
|
Deng, Han-Xiang
|
|
1995
|
4 |
6 |
p. 1113-1116
|
artikel
|
| 22 |
Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer
|
Mousses, Spyro
|
|
1995
|
4 |
6 |
p. 1089-1092
|
artikel
|
| 23 |
YAC cloning Mus musculustelomeric DNA: physical, genetic, in situand STS markers for the distal telomere of chromosome 10
|
Kipling, David
|
|
1995
|
4 |
6 |
p. 1007-1014
|
artikel
|
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