| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acil and BstNI/Cfrl detect all possible activating point mutations at codons 13 and 61 of the human H-ras oncogene
|
Papp, Thilo
|
|
1992
|
1 |
8 |
p. 649-649
|
artikel
|
| 2 |
A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island
|
Chevalier-Porst, F.
|
|
1992
|
1 |
8 |
p. 647-648
|
artikel
|
| 3 |
An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5′ end of the Monoamine Oxidase A gene
|
Hendriks, R.W.
|
|
1992
|
1 |
8 |
p. 662-662
|
artikel
|
| 4 |
A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)
|
Gärtner, J.
|
|
1992
|
1 |
8 |
p. 654-654
|
artikel
|
| 5 |
A serine-to-phenylalanine substitution leads to loss of alanine: glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1
|
Minatogawa, Yohsuke
|
|
1992
|
1 |
8 |
p. 643-644
|
artikel
|
| 6 |
Author index
|
|
|
1992
|
1 |
8 |
p. 661-661
|
artikel
|
| 7 |
Avall RFLP of human keratin 10 (KRT-10) detected by PCR
|
McLean, W.H.I.
|
|
1992
|
1 |
8 |
p. 659-659
|
artikel
|
| 8 |
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
|
Walker, Ann P.
|
|
1992
|
1 |
8 |
p. 579-585
|
artikel
|
| 9 |
A yeast artificial chromosome contig spanning the Charcot — Marie — Tooth disease type 1A duplication region
|
Nieuwenhuijsen, B.W.
|
|
1992
|
1 |
8 |
p. 605-612
|
artikel
|
| 10 |
Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA
|
Oakey, Rebecca J.
|
|
1992
|
1 |
8 |
p. 613-620
|
artikel
|
| 11 |
Dinucleotide repeat polymorphism at the D7S547 locus
|
Gregg, Ronald G.
|
|
1992
|
1 |
8 |
p. 659-659
|
artikel
|
| 12 |
Dinucleotide repeat polymorphism at the D5S134 locus linked to the adenomatous polyposis coli (APC) gene
|
Koorey, David J.
|
|
1992
|
1 |
8 |
p. 655-655
|
artikel
|
| 13 |
Dinucleotide repeat polymorphism at the human ribophorin II locus (RPN2) on chromosome 20q
|
Stoffel, M.
|
|
1992
|
1 |
8 |
p. 656-656
|
artikel
|
| 14 |
Dinucleotide repeat polymorphism at the IFNA locus (9p22)
|
Kwiatkowski, David J.
|
|
1992
|
1 |
8 |
p. 658-658
|
artikel
|
| 15 |
Dinucleotide repeat polymorphism in the human DCC gene at chromosome 18q21
|
Risinger, John I.
|
|
1992
|
1 |
8 |
p. 657-657
|
artikel
|
| 16 |
Dinucleotide repeat polymorphisms at the D3S1246 and D3S1247 loci
|
Xiao, Hong
|
|
1992
|
1 |
8 |
p. 652-652
|
artikel
|
| 17 |
High-resolution in situ hybridization using DNA halo preparations
|
Wiegant, J.
|
|
1992
|
1 |
8 |
p. 587-591
|
artikel
|
| 18 |
Human Bg/II/Bc/I RFLP recognized by 5' region of human MAP 2 gene probe
|
Ding, Yuan
|
|
1992
|
1 |
8 |
p. 655-655
|
artikel
|
| 19 |
Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient
|
Winnard, A.V.
|
|
1992
|
1 |
8 |
p. 645-646
|
artikel
|
| 20 |
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia
|
Cox, Timothy C.
|
|
1992
|
1 |
8 |
p. 639-641
|
artikel
|
| 21 |
Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization
|
Knight, Jennifer C.
|
|
1992
|
1 |
8 |
p. 633-637
|
artikel
|
| 22 |
Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy
|
Richard, Isabelle
|
|
1992
|
1 |
8 |
p. 621-624
|
artikel
|
| 23 |
Multiple colors by fluorescence in situ hybridization using ratio-labelled DNA probes create a molecular karyotype
|
Dauwerse, J.G.
|
|
1992
|
1 |
8 |
p. 593-598
|
artikel
|
| 24 |
Rsal polymorphism of the human CD27 gene, a member of nerve growth factor receptor gene family
|
Martínez-Cáceres, E.
|
|
1992
|
1 |
8 |
p. 660-660
|
artikel
|
| 25 |
Taql RFLP in the region of the human homeobox PBX3 gene
|
Pulik, L.
|
|
1992
|
1 |
8 |
p. 656-656
|
artikel
|
| 26 |
Tetranucleotide repeat polymorphism at the human myelin basic protein gene (MBP)
|
Polymeropoulos, Mihael H.
|
|
1992
|
1 |
8 |
p. 658-658
|
artikel
|
| 27 |
Three dinucleotide repeat polymorphisms at the DXS178 locus
|
de Weers, M.
|
|
1992
|
1 |
8 |
p. 653-653
|
artikel
|
| 28 |
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
|
Oudet, Claudine
|
|
1992
|
1 |
8 |
p. 599-603
|
artikel
|
| 29 |
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1)
|
Donaldson, D.H.
|
|
1992
|
1 |
8 |
p. 651-651
|
artikel
|
| 30 |
Unusual variability of the complex dinucleotide repeat block at the SPN locus
|
Rogaev, E.I.
|
|
1992
|
1 |
8 |
p. 657-657
|
artikel
|
| 31 |
Variable breakpoints in Burkitt lymphoma cells with chromosomal t(8; 14) translocation separate c-myc and the IgH locus up to several hundred kb
|
Joos, Stefan
|
|
1992
|
1 |
8 |
p. 625-632
|
artikel
|
Tijdschrift beschrijving