| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family
|
Al-Maghtheh, M.
|
|
1994
|
3 |
1 |
p. 205-206
|
article
|
| 2 |
A common amino acid polymorphism in complement component C1R
|
Nöthen, Markus M.
|
|
1994
|
3 |
1 |
p. 217-217
|
article
|
| 3 |
A dinucleotide repeat in the third intron of CD36
|
Lipsky, Robert H.
|
|
1994
|
3 |
1 |
p. 217-217
|
article
|
| 4 |
A dinucleotide repeat polymorphism in the FCERIB gene
|
Danies, S.E.
|
|
1994
|
3 |
1 |
p. 213-213
|
article
|
| 5 |
A dinucleotide repeat polymorphism in the FCERIB gene
|
Daniels, S.E.
|
|
1994
|
3 |
1 |
p. 212-213
|
article
|
| 6 |
A missense mutation (211His–Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family
|
Reig, Carlos
|
|
1994
|
3 |
1 |
p. 195-196
|
article
|
| 7 |
A polymorphic dinucleotide repeat in the third intron of TAP1
|
Carrington, Mary
|
|
1994
|
3 |
1 |
p. 218-218
|
article
|
| 8 |
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
|
Wu, Yuan-Qing
|
|
1994
|
3 |
1 |
p. 167-171
|
article
|
| 9 |
Author index
|
|
|
1994
|
3 |
1 |
p. 221-221
|
article
|
| 10 |
Detection of four polymorphic sites in the human dopamine D1 receptor gene (DRD1)
|
Cichon, Sven
|
|
1994
|
3 |
1 |
p. 209-209
|
article
|
| 11 |
Dinucleotide repeat polumorphisms at the D16S525, D16S359. D16S531 and D16S522 loci
|
Shen, Y.
|
|
1994
|
3 |
1 |
p. 210-210
|
article
|
| 12 |
Dinucleotide repeat polymorphism at D16S533
|
Cleton-Jansen, A.M.
|
|
1994
|
3 |
1 |
p. 216-216
|
article
|
| 13 |
Dinucleotide repeat polymorphism at the FGFR1 gene
|
Yu, Chang-En
|
|
1994
|
3 |
1 |
p. 212-212
|
article
|
| 14 |
Dinucleotide repeat polymorphism for HLX1 gene
|
Sander, A.
|
|
1994
|
3 |
1 |
p. 219-219
|
article
|
| 15 |
Dinucleotide repeat polymorphism in the human RFX1 gene
|
Kern, Ilse
|
|
1994
|
3 |
1 |
p. 216-216
|
article
|
| 16 |
Dinucleotide repeat polymorphism within ERCC5 gene
|
Samec, S.
|
|
1994
|
3 |
1 |
p. 214-214
|
article
|
| 17 |
Dinucleotide repeats flanking the renal carcinoma breakpoint at 3p14.2
|
Roche, Joëlle
|
|
1994
|
3 |
1 |
p. 215-215
|
article
|
| 18 |
Identification of a novel mutation (Leu 256— Pro) in the human aldolase B gene associated with hereditary tructose Intolerance
|
Sebastlo, M. All, G.
|
|
1994
|
3 |
1 |
p. 203-204
|
article
|
| 19 |
Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene
|
Harvey, John S.
|
|
1994
|
3 |
1 |
p. 207-207
|
article
|
| 20 |
Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence
|
P.Ketterling, Rhett
|
|
1994
|
3 |
1 |
p. 191-192
|
article
|
| 21 |
Mnll polymorphism for the AGTR1 gene
|
Rolfs, A.
|
|
1994
|
3 |
1 |
p. 213-213
|
article
|
| 22 |
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family
|
Meiner, Vardiella
|
|
1994
|
3 |
1 |
p. 193-194
|
article
|
| 23 |
Simple repeat polymorphism at the D9S151 locus
|
Berkman, Jenny
|
|
1994
|
3 |
1 |
p. 211-211
|
article
|
| 24 |
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome
|
Renieri, Alessandra
|
|
1994
|
3 |
1 |
p. 201-202
|
article
|
| 25 |
Taqlpolymorphism of the human tissue inhibitor of metallo-proteinases-2 (Timp2) gene
|
Jares, Pedro
|
|
1994
|
3 |
1 |
p. 218-218
|
article
|
| 26 |
Tetranucleotide length polymorphism 5' of the α2-macroglobulin receptor (A2MR)/LDL receptor-related protein (LRP) gene
|
Zuliani, Giovanni
|
|
1994
|
3 |
1 |
p. 215-215
|
article
|
| 27 |
Tetranucleotide repeat polymorphism at the D8S346 locus
|
Riley, Robyn
|
|
1994
|
3 |
1 |
p. 214-214
|
article
|
| 28 |
Two microsatellite repeat polymorphisms in the EPO gene
|
Sokol, Lubomir
|
|
1994
|
3 |
1 |
p. 219-219
|
article
|
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