| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A CA repeat polymorphism at D11S1383
|
Saris, J. J.
|
|
1994
|
|
3 |
p. 522-522
|
artikel
|
| 2 |
A centromeric microsatellite probe on chromosome 3: LIB 9-95ca (D3S1338)
|
Schmidt, Laura
|
|
1993
|
|
3 |
p. 335-335
|
artikel
|
| 3 |
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
|
Bashlr, Rumaisa
|
|
1994
|
|
3 |
p. 455-457
|
artikel
|
| 4 |
A gene responsible for cavernous malformations of the brain maps to chromosome 7q
|
Dubovsky, Jan
|
|
1995
|
|
3 |
p. 453-458
|
artikel
|
| 5 |
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I
|
Greenberg, Cheryl R.
|
|
1995
|
|
3 |
p. 493-495
|
artikel
|
| 6 |
AK1 detects a VNTR locus in the pseudoautosomal region
|
Klink, A.
|
|
1993
|
|
3 |
p. 339-339
|
artikel
|
| 7 |
An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32
|
Mäkelä, Tomi P.
|
|
1992
|
|
3 |
p. 217-217
|
artikel
|
| 8 |
An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene
|
Bleyl, Steven
|
|
1994
|
|
3 |
p. 517-518
|
artikel
|
| 9 |
A new polymorphic probe on chromosome 22q (XD6) (D22S313)
|
Cardoso, H.
|
|
1993
|
|
3 |
p. 338-338
|
artikel
|
| 10 |
An Mbol RFLP in the human erythrocyte surface protein band 3-like 1 gene (EPB3L1) on chromosome 7q35–7q36
|
Showe, Michael K.
|
|
1993
|
|
3 |
p. 337-337
|
artikel
|
| 11 |
An Mspl polymorphism in the hyman serotonin receptor gene (HTR2): detection by DGGE and RFLP analysis
|
Warren, James T. Jr
|
|
1993
|
|
3 |
p. 338-338
|
artikel
|
| 12 |
A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis
|
Ikeda, M.
|
|
1995
|
|
3 |
p. 491-492
|
artikel
|
| 13 |
An STS from a cDNA located in the myotonic dystrophy region (DM) on human chromosome 19q13.3
|
Lennon, G.G.
|
|
1992
|
|
3 |
p. 217-217
|
artikel
|
| 14 |
Bg/ll polymorphism in the UNG gene in 4 populations
|
Skorpen, Frank
|
|
1994
|
|
3 |
p. 522-522
|
artikel
|
| 15 |
CGG triple repeat polymorphism in VLDL receptor (VLDL-R) gene
|
Jokinen, Eero
|
|
1994
|
|
3 |
p. 521-521
|
artikel
|
| 16 |
Dinucleotide repeat polymorphism at the D22S268 locus
|
Marineau, Claude
|
|
1993
|
|
3 |
p. 336-336
|
artikel
|
| 17 |
Dinucleotide repeat polymorphism at the DXS178 locus
|
Allen, R.Cutler
|
|
1992
|
|
3 |
p. 216-216
|
artikel
|
| 18 |
Dinucleotide repeat polymorphism at the HOX 2B locus
|
Dow, Eleanor
|
|
1992
|
|
3 |
p. 218-218
|
artikel
|
| 19 |
Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus
|
Hentati, A.
|
|
1992
|
|
3 |
p. 218-218
|
artikel
|
| 20 |
Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5
|
Li, X.
|
|
1992
|
|
3 |
p. 216-216
|
artikel
|
| 21 |
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus
|
Tagle, Danilo A.
|
|
1992
|
|
3 |
p. 215-215
|
artikel
|
| 22 |
Dinucleotide repeat polymorphism in the VHL region
|
Loeb, Deborah
|
|
1994
|
|
3 |
p. 520-520
|
artikel
|
| 23 |
Direct analysis of R408W mutation in phenylalanine hydroxylase gene by allele-specific PCR amplification
|
Dvořáková, Dana
|
|
1993
|
|
3 |
p. 323-323
|
artikel
|
| 24 |
D11S970 CATT polymorphism (RC29) located near the MEN1 locus at 11q13
|
Taggart, R. Thomas
|
|
1993
|
|
3 |
p. 336-336
|
artikel
|
| 25 |
Exon scanning for mutation of the NF2 gene in schwannomas
|
Jacoby, Lee B.
|
|
1994
|
|
3 |
p. 413-419
|
artikel
|
| 26 |
Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development
|
Gutmann, David H.
|
|
1995
|
|
3 |
p. 471-478
|
artikel
|
| 27 |
Gene therapy for cystic fibrosis—Where and When?
|
Porteous, David J.
|
|
1993
|
|
3 |
p. 211-212
|
artikel
|
| 28 |
Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus
|
Allamand, V.
|
|
1995
|
|
3 |
p. 459-463
|
artikel
|
| 29 |
High frequencies in African and non-African populations of independent mutation in the mannose binding protein gene
|
Lipscombe, R.J.
|
|
1993
|
|
3 |
p. 342-342
|
artikel
|
| 30 |
Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1)
|
Lin, Margaret J.
|
|
1994
|
|
3 |
p. 520-520
|
artikel
|
| 31 |
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing
|
Savov, A.
|
|
1994
|
|
3 |
p. 530-530
|
artikel
|
| 32 |
Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population
|
Simard, Louise R.
|
|
1994
|
|
3 |
p. 459-463
|
artikel
|
| 33 |
Linkage of posterior polymorphous corneal dystrophy to 20q11
|
Héon, Elise
|
|
1995
|
|
3 |
p. 485-488
|
artikel
|
| 34 |
Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer
|
Curtis, Lucy J.
|
|
1994
|
|
3 |
p. 443-446
|
artikel
|
| 35 |
Microsatellite repeat polymorphism at the D13S197 locus
|
Hong, Hee-Kyung
|
|
1993
|
|
3 |
p. 337-337
|
artikel
|
| 36 |
PA2.1 detects a Taql polymorphism in the pseudoautosomal region
|
Henke, A.
|
|
1993
|
|
3 |
p. 339-339
|
artikel
|
| 37 |
Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes
|
Martin, Maureen
|
|
1995
|
|
3 |
p. 423-428
|
artikel
|
| 38 |
Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat
|
Lin, B.
|
|
1994
|
|
3 |
p. 530-530
|
artikel
|
| 39 |
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome
|
Dubovsky, Jan
|
|
1995
|
|
3 |
p. 449-452
|
artikel
|
| 40 |
Tetranucleotide repeat polymorphism in RAF1
|
Mao, Li
|
|
1994
|
|
3 |
p. 521-521
|
artikel
|
| 41 |
The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms
|
Haase, Volker H.
|
|
1994
|
|
3 |
p. 407-411
|
artikel
|
| 42 |
The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat
|
Wilcox, Edward R.
|
|
1992
|
|
3 |
p. 215-215
|
artikel
|
| 43 |
Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice
|
Hergersberg, Martin
|
|
1995
|
|
3 |
p. 359-366
|
artikel
|
| 44 |
Trinucleotide repeat polymorphism at the PKLR locus
|
Lenzner, C.
|
|
1994
|
|
3 |
p. 523-523
|
artikel
|
| 45 |
Two dinucleotide repeat polymorphisms at the DMD locus
|
King, S.C.
|
|
1994
|
|
3 |
p. 523-523
|
artikel
|
| 46 |
Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
|
Cheadle, Jeremy P.
|
|
1993
|
|
3 |
p. 317-319
|
artikel
|
| 47 |
Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene
|
Verderio, E.
|
|
1993
|
|
3 |
p. 334-334
|
artikel
|
| 48 |
VNTR polymorphism for the human dopamine transporter gene (DAT1)
|
Byerley, William
|
|
1993
|
|
3 |
p. 335-335
|
artikel
|
Tijdschrift beschrijving