| 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
|
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