| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers–Danlos syndrome type VI
|
Pousi, Birgitta
|
|
2000
|
|
1-2 |
p. 33-37
5 p.
|
artikel
|
| 2 |
A nucleotide polymorphism in ERCC1 in human ovarian cancer cell lines and tumor tissues
|
Yu, Jing Jie
|
|
1997
|
|
1-2 |
p. 13-20
8 p.
|
artikel
|
| 3 |
Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease
|
Kang, Amrit K
|
|
1997
|
|
1-2 |
p. 57-65
9 p.
|
artikel
|
| 4 |
Characterization of a single nucleotide polymorphism in the coding sequence of the bovine transferrin gene
|
Laurent, P
|
|
2001
|
|
1-2 |
p. 1-5
5 p.
|
artikel
|
| 5 |
Detection of a point mutation (A to G) in exon 5 of the murine Mgf gene defines a novel allele at the Steel locus with a weak phenotype 1 The nucleotide sequence data reported in this paper have been submitted to the EMBL data base; accession number is Y10287. 1
|
Graw, Jochen
|
|
1997
|
|
1-2 |
p. 75-78
4 p.
|
artikel
|
| 6 |
Editorial
|
|
|
1997
|
|
1-2 |
p. 1-4
4 p.
|
artikel
|
| 7 |
Genomic analysis of γ-ray-induced germ-cell mutations at the b locus recovered from the medaka specific-locus test
|
Fukamachi, Shoji
|
|
2001
|
|
1-2 |
p. 19-29
11 p.
|
artikel
|
| 8 |
Genomic analysis of single cells from human basal cell cancer using laser-assisted capture microscopy
|
Pontén, Fredrik
|
|
1997
|
|
1-2 |
p. 45-55
11 p.
|
artikel
|
| 9 |
G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene
|
Bespalova, Irina N
|
|
1997
|
|
1-2 |
p. 67-74
8 p.
|
artikel
|
| 10 |
Identification and characterization of two polymorphic Ya5 Alu repeats
|
Arcot, Santosh S
|
|
1997
|
|
1-2 |
p. 5-11
7 p.
|
artikel
|
| 11 |
Localization, sequence analysis, and ethnic distribution of a 96-bp insertion in the promoter of the human CYP2E1 gene
|
Fritsche, Ellen
|
|
2000
|
|
1-2 |
p. 1-5
5 p.
|
artikel
|
| 12 |
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease
|
Kim, Un Kyung
|
|
2000
|
|
1-2 |
p. 39-45
7 p.
|
artikel
|
| 13 |
Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke
|
Finnilä, Saara
|
|
2001
|
|
1-2 |
p. 31-39
9 p.
|
artikel
|
| 14 |
Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder
|
Kimura, Fumihiro
|
|
2001
|
|
1-2 |
p. 49-54
6 p.
|
artikel
|
| 15 |
Polymorphisms of the CYP1A1 and GSTM1 genes in relation to individual susceptibility to lung carcinoma in Chinese population
|
Chen, Senqing
|
|
2001
|
|
1-2 |
p. 41-47
7 p.
|
artikel
|
| 16 |
Predicted changes in pre-mRNA secondary structure vary in their association with exon skipping for mutations in exons 2, 4, and 8 of the Hprt gene and exon 51 of the fibrillin gene
|
Tu, Meihua
|
|
2000
|
|
1-2 |
p. 15-32
18 p.
|
artikel
|
| 17 |
Search for DNA sequence variations using a MutS-based technology
|
Bellanné-Chantelot, Christine
|
|
1997
|
|
1-2 |
p. 35-43
9 p.
|
artikel
|
| 18 |
The design of a new mutation model for active genes: expression of the Escherichia coli lac operon in mammalian cells
|
Van Sloun, Petra P.H
|
|
1997
|
|
1-2 |
p. 21-33
13 p.
|
artikel
|
| 19 |
Use of archival tissue in epidemiologic studies: collection procedures and assessment of potential sources of bias
|
Slattery, Martha L
|
|
2000
|
|
1-2 |
p. 7-14
8 p.
|
artikel
|
| 20 |
VAPSE-based analysis: a two-phased candidate gene approach for elucidating genetic predisposition to complex disorders
|
Weinshenker, Brian G
|
|
2001
|
|
1-2 |
p. 7-17
11 p.
|
artikel
|
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