Digital Library
Close Browse articles from a journal
     Journal description
       All volumes of the corresponding journal
         All issues of the corresponding volume
                                       All articles of the corresponding issues
 
                             58 results found
no title author magazine year volume issue page(s) type
1 A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8 Pillo, Biagio La
1993
2 8 p. 1331-1331
article
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
article
3 A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus Goulielmos, G.
1993
2 8 p. 1328-1328
article
4 A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13 Francis, Michael J.
1993
2 8 p. 1161-1167
article
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
article
6 Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability Armour, John A.L.
1993
2 8 p. 1137-1145
article
7 Alternative splicing in the fragile X gene FMR1 Verkerk, A.J.M.H.
1993
2 8 p. 1348-1348
article
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
article
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
article
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
article
11 A new VNTR polymorphism at locus D1S340 Honma, Masamitsu
1993
2 8 p. 1329-1329
article
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
article
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
article
14 A triplet repeat polymorphism in a gene expressed in human hypothalamus Phillips, K.L.
1993
2 8 p. 1332-1332
article
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
article
16 Bsml polymorphism at the parathyroid hormone receptor locus (PTHR) in three populations Hustmye, Frank G.
1993
2 8 p. 1330-1330
article
17 Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy Winnard, A.V.
1993
2 8 p. 1347-1347
article
18 Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse Bućan, Maja
1993
2 8 p. 1245-1252
article
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
article
20 Digital DNA typing at a second hypervariable locus by minisatellite variant repeat mapping Nell, David L.
1993
2 8 p. 1129-1135
article
21 Dinucleotide repeat polymorphism at the D10S469 locus Decker, Ruth A.
1993
2 8 p. 1330-1330
article
22 Dinucleotide repeat polymorphism at the D11S995 locus Browne, D.L.
1993
2 8 p. 1332-1332
article
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
article
24 Fine structure of the human FMR1 gene Eichler, Evan E.
1993
2 8 p. 1147-1153
article
25 Generation of band-specific painting probes from a single microdissected chromosome Guan, X.-Y.
1993
2 8 p. 1117-1121
article
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
article
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
article
28 High frequency gene targeting using insertional vectors Dickinson, Paul
1993
2 8 p. 1299-1302
article
29 High resolution physical map of the region surrounding the spinal muscular atrophy gene Thompson, Terrl G.
1993
2 8 p. 1169-1176
article
30 Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene Chillón, Miguel
1993
2 8 p. 1317-1318
article
31 Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta Sztrolovics, R.
1993
2 8 p. 1319-1321
article
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
article
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
article
34 Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR Yang, Yiping
1993
2 8 p. 1253-1261
article
35 Mutation of human short tandem repeats Weber, James L.
1993
2 8 p. 1123-1128
article
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
article
37 New human DNA polymorphisms submitted to the genome data base 1993
2 8 p. 1335-1344
article
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
article
39 Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci Talbot, C. Conover Jr
1993
2 8 p. 1325-1325
article
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
article
41 Presence of the Mediterranean PKU mutation IVS10 in Latin America Pérez, Belén
1993
2 8 p. 1289-1290
article
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
article
43 Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2) Biddinger, A.L.
1993
2 8 p. 1323-1323
article
44 Severe splice site mutation preceding exon 9 of the CFTR gene Dörk, Thilo
1993
2 8 p. 1313-1314
article
45 Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations Seo, Hee-Chan
1993
2 8 p. 1205-1208
article
46 SSCP polymorphism in exon 8B of the human G proteina αO2 subunit (GNA01) gene Drews, R.T.
1993
2 8 p. 1333-1333
article
47 The development of sequence-tagged sites for human chromosome 4 Goold, Richard D.
1993
2 8 p. 1271-1288
article
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
article
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
article
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
article
51 The leading role of STSs in genome mapping Ward, Tristan
1993
2 8 p. 1097-1098
article
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
article
53 Three Mspl polymorphisms at the UGT1 locus Moghrabi, Nabil
1993
2 8 p. 1324-1324
article
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
article
55 Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359 Li, Hua
1993
2 8 p. 1327-1327
article
56 Trinucleotide repeat polymorphism at the D5S556 locus Burlet, Philippe
1993
2 8 p. 1328-1328
article
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
article
58 X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus Ravia, Yehoshua
1993
2 8 p. 1295-1297
article
                             58 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands