| 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
|
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