nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A gene for hereditary multiple exostoses maps to chromosome 19p
|
Le Merrer, Marline |
|
1994 |
3 |
5 |
p. 717-722 |
artikel |
2 |
A 2.8 Mb YAC contig in 11q12 – q13 localizes candidate genes for atopy: FcɛRIβ and CD20
|
Stafford, A.N. |
|
1994 |
3 |
5 |
p. 779-785 |
artikel |
3 |
Angiotensin II (type-1) receptor locus: CA repeat polymorphism and genetic mapping
|
Davies, E. |
|
1994 |
3 |
5 |
p. 838-838 |
artikel |
4 |
An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21
|
Nižetić, Dean |
|
1994 |
3 |
5 |
p. 759-770 |
artikel |
5 |
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern
|
Gilbert-Dussardier, Brigitte |
|
1994 |
3 |
5 |
p. 831-832 |
artikel |
6 |
A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency
|
Maekawa, Masato |
|
1994 |
3 |
5 |
p. 825-826 |
artikel |
7 |
A novel nuclear protein binds centromeric alpha satellite DNA
|
Gaff, C. |
|
1994 |
3 |
5 |
p. 711-716 |
artikel |
8 |
Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2
|
G.Young, Stephen |
|
1994 |
3 |
5 |
p. 741-744 |
artikel |
9 |
Author index
|
|
|
1994 |
3 |
5 |
p. 851-851 |
artikel |
10 |
BLOCK-based PCR markers to find gene family members in human and comparative genome analysis
|
D'Esposito, Maurizlo |
|
1994 |
3 |
5 |
p. 735-740 |
artikel |
11 |
(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein
|
Khurana, T.S. |
|
1994 |
3 |
5 |
p. 841-841 |
artikel |
12 |
Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins
|
Albertella, Mark R. |
|
1994 |
3 |
5 |
p. 793-799 |
artikel |
13 |
CORRIGENDUM
|
|
|
1994 |
3 |
5 |
p. 852-852 |
artikel |
14 |
De novo formation of several features of a centromere following introduction of a Y alphoid YAC into mammalian cells
|
Larin, Zoia |
|
1994 |
3 |
5 |
p. 689-695 |
artikel |
15 |
Dinucleotide repeat polymorphism at the D3S1255 locus
|
Klauck, S.M. |
|
1994 |
3 |
5 |
p. 840-840 |
artikel |
16 |
Dinucleotide repeat polymorphism at the D3S666 locus
|
Klauck, S.M. |
|
1994 |
3 |
5 |
p. 840-840 |
artikel |
17 |
Dinucleotide repeat polymorphism at the NCAM locus
|
Telatar, M. |
|
1994 |
3 |
5 |
p. 842-842 |
artikel |
18 |
Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p
|
Todd, S. |
|
1994 |
3 |
5 |
p. 841-841 |
artikel |
19 |
Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci
|
Borwne, D.L. |
|
1994 |
3 |
5 |
p. 842-842 |
artikel |
20 |
Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor
|
Farmer, Andrew A. |
|
1994 |
3 |
5 |
p. 723-728 |
artikel |
21 |
Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498
|
Li, H. |
|
1994 |
3 |
5 |
p. 837-837 |
artikel |
22 |
Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21
|
Bessler, M. |
|
1994 |
3 |
5 |
p. 751-757 |
artikel |
23 |
Identification of five novel mutations in the porphobilinogen deaminase gene
|
S.Mgone, Charles |
|
1994 |
3 |
5 |
p. 809-811 |
artikel |
24 |
Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p
|
Francomano, Clalr A. |
|
1994 |
3 |
5 |
p. 787-792 |
artikel |
25 |
Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes
|
Heln, David W. |
|
1994 |
3 |
5 |
p. 729-734 |
artikel |
26 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1994 |
3 |
5 |
p. 843-849 |
artikel |
27 |
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
|
Ravnlk-Glavač, Metka |
|
1994 |
3 |
5 |
p. 801-807 |
artikel |
28 |
SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1)
|
Lench, N.J. |
|
1994 |
3 |
5 |
p. 827-828 |
artikel |
29 |
SSCP/SacI polymorphism in the PAX5 gene
|
Vorechovsky, I. |
|
1994 |
3 |
5 |
p. 839-839 |
artikel |
30 |
Ten base pair duplication in exon 38 of the NF1 gene
|
Legius, Eric |
|
1994 |
3 |
5 |
p. 829-830 |
artikel |
31 |
Tetranucleotide repeat polymorphism at the D8S640 locus
|
Lu, J. |
|
1994 |
3 |
5 |
p. 839-839 |
artikel |
32 |
The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation
|
Rovlra, Ana |
|
1994 |
3 |
5 |
p. 833-835 |
artikel |
33 |
The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes
|
Kvaløy, K. |
|
1994 |
3 |
5 |
p. 771-778 |
artikel |