nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8
|
Pillo, Biagio La |
|
1993 |
2 |
8 |
p. 1331-1331 |
artikel |
2 |
A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
|
Nichols, B.E. |
|
1993 |
2 |
8 |
p. 1347-1347 |
artikel |
3 |
A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus
|
Goulielmos, G. |
|
1993 |
2 |
8 |
p. 1328-1328 |
artikel |
4 |
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
|
Francis, Michael J. |
|
1993 |
2 |
8 |
p. 1161-1167 |
artikel |
5 |
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase
|
Llewellyn, D.H. |
|
1993 |
2 |
8 |
p. 1315-1316 |
artikel |
6 |
Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability
|
Armour, John A.L. |
|
1993 |
2 |
8 |
p. 1137-1145 |
artikel |
7 |
Alternative splicing in the fragile X gene FMR1
|
Verkerk, A.J.M.H. |
|
1993 |
2 |
8 |
p. 1348-1348 |
artikel |
8 |
A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency
|
Atasoy, Ulus |
|
1993 |
2 |
8 |
p. 1307-1308 |
artikel |
9 |
A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B
|
Vielhaber, Erica |
|
1993 |
2 |
8 |
p. 1309-1310 |
artikel |
10 |
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
|
Claustres, Mireille |
|
1993 |
2 |
8 |
p. 1209-1213 |
artikel |
11 |
A new VNTR polymorphism at locus D1S340
|
Honma, Masamitsu |
|
1993 |
2 |
8 |
p. 1329-1329 |
artikel |
12 |
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta
|
Mackay, Katrina |
|
1993 |
2 |
8 |
p. 1155-1160 |
artikel |
13 |
A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred
|
Holtzman, Eliezer J. |
|
1993 |
2 |
8 |
p. 1201-1204 |
artikel |
14 |
A triplet repeat polymorphism in a gene expressed in human hypothalamus
|
Phillips, K.L. |
|
1993 |
2 |
8 |
p. 1332-1332 |
artikel |
15 |
Bg/ll restriction fragment length polymorphism at the gene locus coding for the leukocyte surface antigen CD37
|
Virtaneva, Kimmo I. |
|
1993 |
2 |
8 |
p. 1331-1331 |
artikel |
16 |
Bsml polymorphism at the parathyroid hormone receptor locus (PTHR) in three populations
|
Hustmye, Frank G. |
|
1993 |
2 |
8 |
p. 1330-1330 |
artikel |
17 |
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
|
Winnard, A.V. |
|
1993 |
2 |
8 |
p. 1347-1347 |
artikel |
18 |
Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse
|
Bućan, Maja |
|
1993 |
2 |
8 |
p. 1245-1252 |
artikel |
19 |
Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH)
|
Delhanty, Joy D.A. |
|
1993 |
2 |
8 |
p. 1183-1185 |
artikel |
20 |
Digital DNA typing at a second hypervariable locus by minisatellite variant repeat mapping
|
Nell, David L. |
|
1993 |
2 |
8 |
p. 1129-1135 |
artikel |
21 |
Dinucleotide repeat polymorphism at the D10S469 locus
|
Decker, Ruth A. |
|
1993 |
2 |
8 |
p. 1330-1330 |
artikel |
22 |
Dinucleotide repeat polymorphism at the D11S995 locus
|
Browne, D.L. |
|
1993 |
2 |
8 |
p. 1332-1332 |
artikel |
23 |
Dinucleotide repeat polymorphism in the 3'untranslated region of an anonymous brain cDNA mapping to chromosome 2 (D2S230)
|
Byerley, William |
|
1993 |
2 |
8 |
p. 1329-1329 |
artikel |
24 |
Fine structure of the human FMR1 gene
|
Eichler, Evan E. |
|
1993 |
2 |
8 |
p. 1147-1153 |
artikel |
25 |
Generation of band-specific painting probes from a single microdissected chromosome
|
Guan, X.-Y. |
|
1993 |
2 |
8 |
p. 1117-1121 |
artikel |
26 |
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12–21: exclusion of candidate genes EDH17B2 and RARA
|
Simard, Jacques |
|
1993 |
2 |
8 |
p. 1193-1199 |
artikel |
27 |
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus
|
Sanson, Marc |
|
1993 |
2 |
8 |
p. 1215-1220 |
artikel |
28 |
High frequency gene targeting using insertional vectors
|
Dickinson, Paul |
|
1993 |
2 |
8 |
p. 1299-1302 |
artikel |
29 |
High resolution physical map of the region surrounding the spinal muscular atrophy gene
|
Thompson, Terrl G. |
|
1993 |
2 |
8 |
p. 1169-1176 |
artikel |
30 |
Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene
|
Chillón, Miguel |
|
1993 |
2 |
8 |
p. 1317-1318 |
artikel |
31 |
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta
|
Sztrolovics, R. |
|
1993 |
2 |
8 |
p. 1319-1321 |
artikel |
32 |
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping
|
Lehesjokl, Anna-Ellna |
|
1993 |
2 |
8 |
p. 1229-1234 |
artikel |
33 |
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes
|
Lafrenlère, Ronald G. |
|
1993 |
2 |
8 |
p. 1105-1115 |
artikel |
34 |
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR
|
Yang, Yiping |
|
1993 |
2 |
8 |
p. 1253-1261 |
artikel |
35 |
Mutation of human short tandem repeats
|
Weber, James L. |
|
1993 |
2 |
8 |
p. 1123-1128 |
artikel |
36 |
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
|
Hofmann-Radvanyi, Hélène |
|
1993 |
2 |
8 |
p. 1263-1266 |
artikel |
37 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993 |
2 |
8 |
p. 1335-1344 |
artikel |
38 |
No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues
|
Jansen, Gert |
|
1993 |
2 |
8 |
p. 1221-1227 |
artikel |
39 |
Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci
|
Talbot, C. Conover Jr |
|
1993 |
2 |
8 |
p. 1325-1325 |
artikel |
40 |
Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences
|
Chong, Samuel S. |
|
1993 |
2 |
8 |
p. 1187-1191 |
artikel |
41 |
Presence of the Mediterranean PKU mutation IVS10 in Latin America
|
Pérez, Belén |
|
1993 |
2 |
8 |
p. 1289-1290 |
artikel |
42 |
Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome
|
Chevillard, Christophe |
|
1993 |
2 |
8 |
p. 1235-1243 |
artikel |
43 |
Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2)
|
Biddinger, A.L. |
|
1993 |
2 |
8 |
p. 1323-1323 |
artikel |
44 |
Severe splice site mutation preceding exon 9 of the CFTR gene
|
Dörk, Thilo |
|
1993 |
2 |
8 |
p. 1313-1314 |
artikel |
45 |
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations
|
Seo, Hee-Chan |
|
1993 |
2 |
8 |
p. 1205-1208 |
artikel |
46 |
SSCP polymorphism in exon 8B of the human G proteina αO2 subunit (GNA01) gene
|
Drews, R.T. |
|
1993 |
2 |
8 |
p. 1333-1333 |
artikel |
47 |
The development of sequence-tagged sites for human chromosome 4
|
Goold, Richard D. |
|
1993 |
2 |
8 |
p. 1271-1288 |
artikel |
48 |
The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect
|
lI, Setsuko |
|
1993 |
2 |
8 |
p. 1303-1305 |
artikel |
49 |
The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
|
Puck, Jennifer M. |
|
1993 |
2 |
8 |
p. 1099-1104 |
artikel |
50 |
The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene
|
Liu, Wanguo |
|
1993 |
2 |
8 |
p. 1177-1182 |
artikel |
51 |
The leading role of STSs in genome mapping
|
Ward, Tristan |
|
1993 |
2 |
8 |
p. 1097-1098 |
artikel |
52 |
The major centromeric array of alphoid satellite DNA on the human Y chromosome is non-palindromic
|
Cooper, Katrina F. |
|
1993 |
2 |
8 |
p. 1267-1270 |
artikel |
53 |
Three Mspl polymorphisms at the UGT1 locus
|
Moghrabi, Nabil |
|
1993 |
2 |
8 |
p. 1324-1324 |
artikel |
54 |
Three polymorphic dinucleotide repeats near the von Hippel Lindau (VHL) disease gene on human chromosome 3:D3S587; D3S1317; D3S1435
|
Li, Hua |
|
1993 |
2 |
8 |
p. 1326-1326 |
artikel |
55 |
Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359
|
Li, Hua |
|
1993 |
2 |
8 |
p. 1327-1327 |
artikel |
56 |
Trinucleotide repeat polymorphism at the D5S556 locus
|
Burlet, Philippe |
|
1993 |
2 |
8 |
p. 1328-1328 |
artikel |
57 |
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene
|
Clarke, Lorne A. |
|
1993 |
2 |
8 |
p. 1311-1312 |
artikel |
58 |
X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus
|
Ravia, Yehoshua |
|
1993 |
2 |
8 |
p. 1295-1297 |
artikel |