| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ADDITIONAL INFORMATION
|
|
|
1994
|
3 |
4 |
p. 684-684
|
artikel
|
| 2 |
Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers
|
Arakawa, Hirofuml
|
|
1994
|
3 |
4 |
p. 565-568
|
artikel
|
| 3 |
A microsatellite, D8S602, adjacent to the MSR gene
|
Schmidt, L.
|
|
1994
|
3 |
4 |
p. 679-679
|
artikel
|
| 4 |
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease
|
Fuchs, S.
|
|
1994
|
3 |
4 |
p. 655-656
|
artikel
|
| 5 |
An intragenic Taql RFLP at the PAX5 locus
|
Vořechovský, I.
|
|
1994
|
3 |
4 |
p. 681-681
|
artikel
|
| 6 |
A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1
|
Campbell, Ian G.
|
|
1994
|
3 |
4 |
p. 589-594
|
artikel
|
| 7 |
A PCR method for detecting polymorphism in the TGFA gene
|
Basart, A.M.
|
|
1994
|
3 |
4 |
p. 678-678
|
artikel
|
| 8 |
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)
|
Bassi, Maria T.
|
|
1994
|
3 |
4 |
p. 647-648
|
artikel
|
| 9 |
CA repeat polymorphism at the TCF8 locus
|
Wardlaw, J.C.
|
|
1994
|
3 |
4 |
p. 680-680
|
artikel
|
| 10 |
CFTR haplotype backgrounds on normal and mutant CFTR genes
|
Cuppens, Harry
|
|
1994
|
3 |
4 |
p. 607-614
|
artikel
|
| 11 |
Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3
|
Tachibana, Masayoshl
|
|
1994
|
3 |
4 |
p. 553-557
|
artikel
|
| 12 |
CORRIGENDA
|
|
|
1994
|
3 |
4 |
p. 684-685
|
artikel
|
| 13 |
Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene
|
Richards, Frances M.
|
|
1994
|
3 |
4 |
p. 595-598
|
artikel
|
| 14 |
Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease
|
Davies, Joanna
|
|
1994
|
3 |
4 |
p. 667-669
|
artikel
|
| 15 |
Dinucleotide repeat polymorphism at the DXS1683 locus
|
Econs, M.J.
|
|
1994
|
3 |
4 |
p. 680-680
|
artikel
|
| 16 |
Dinucleotide repeat polymorphism in the IL2 and IL5RA genes
|
Epplen, C.
|
|
1994
|
3 |
4 |
p. 679-679
|
artikel
|
| 17 |
D20S213, a microsatellite polymorphism near the D20S16 locus
|
Howard, T.D.
|
|
1994
|
3 |
4 |
p. 677-677
|
artikel
|
| 18 |
D10S681, a microsatellite polymorphism near the RET locus
|
Schuster, M.K.
|
|
1994
|
3 |
4 |
p. 677-677
|
artikel
|
| 19 |
ERRATA
|
|
|
1994
|
3 |
4 |
p. 686-687
|
artikel
|
| 20 |
Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome
|
Sander, A.
|
|
1994
|
3 |
4 |
p. 575-578
|
artikel
|
| 21 |
High resolution ordering of YAC contigs using extended chromatin and chromosomes
|
Haaf, Thomas
|
|
1994
|
3 |
4 |
p. 629-633
|
artikel
|
| 22 |
Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent
|
Romey, Marie-Catherine
|
|
1994
|
3 |
4 |
p. 661-662
|
artikel
|
| 23 |
Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others
|
Jones, Cheryl T.
|
|
1994
|
3 |
4 |
p. 649-650
|
artikel
|
| 24 |
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family
|
Coucke, Paul
|
|
1994
|
3 |
4 |
p. 671-673
|
artikel
|
| 25 |
Isolation of human simple repeat loci by hybridization selection
|
Armour, John A.L.
|
|
1994
|
3 |
4 |
p. 599-605
|
artikel
|
| 26 |
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
|
Weber, Angela
|
|
1994
|
3 |
4 |
p. 585-588
|
artikel
|
| 27 |
Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing
|
A.L.Bayne, Rosemary
|
|
1994
|
3 |
4 |
p. 539-546
|
artikel
|
| 28 |
Taql polymorphism in intron 2 of the GCDH gene
|
Haworth, J.C.
|
|
1994
|
3 |
4 |
p. 678-678
|
artikel
|
| 29 |
Tetranucleotide repeat polymorphism at the D8S322 locus
|
Fillmore, K.
|
|
1994
|
3 |
4 |
p. 681-681
|
artikel
|
| 30 |
Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution
|
Breen, Maria
|
|
1994
|
3 |
4 |
p. 621-627
|
artikel
|
| 31 |
Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21
|
Shoshanl, Tzipora
|
|
1994
|
3 |
4 |
p. 657-658
|
artikel
|
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