| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A chromosome 19 CA-dinucleotide repeat polymorphism
|
Phillips, K.L.
|
|
1992
|
1 |
7 |
p. 551-551
|
artikel
|
| 2 |
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome
|
Batch, J. A.
|
|
1992
|
1 |
7 |
p. 497-503
|
artikel
|
| 3 |
An EcoRI RFLP at the human insulin-like growth factor binding protein 2 gene (IGFBP2)
|
Ehrenborg, Ewa
|
|
1992
|
1 |
7 |
p. 552-552
|
artikel
|
| 4 |
A new VNTR-type RELP probe (ChdTC-15) on chromosome 12 (D12S65)
|
Honma, Masamitsu
|
|
1992
|
1 |
7 |
p. 555-555
|
artikel
|
| 5 |
A new VNTR-type RFLP probe (ChdTC-114) on chromosome 20p (D20S72)
|
Honma, Masamitsu
|
|
1992
|
1 |
7 |
p. 554-554
|
artikel
|
| 6 |
A new VNTR-type RFLP probe (λTM-18) on chromosome 1 (D1S157)
|
Honma, Masamitsu
|
|
1992
|
1 |
7 |
p. 554-554
|
artikel
|
| 7 |
A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening
|
Kälin, Nanette
|
|
1992
|
1 |
7 |
p. 545-546
|
artikel
|
| 8 |
An Sphl polymorphism at the vinculin locus (VCL)
|
Mulligan, L.M.
|
|
1992
|
1 |
7 |
p. 550-550
|
artikel
|
| 9 |
An Sphl polymorphism at the ZNF22 locus
|
Mulligan, L.M.
|
|
1992
|
1 |
7 |
p. 551-551
|
artikel
|
| 10 |
Author index
|
|
|
1992
|
1 |
7 |
p. 557-557
|
artikel
|
| 11 |
Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family
|
Kumar, Shrawan
|
|
1992
|
1 |
7 |
p. 491-495
|
artikel
|
| 12 |
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells
|
Hamosh, Ada
|
|
1992
|
1 |
7 |
p. 542-544
|
artikel
|
| 13 |
Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease
|
Tümer, Zeynep
|
|
1992
|
1 |
7 |
p. 483-489
|
artikel
|
| 14 |
Detection of a nonsense mutation in the dystrophin gene by multiple SSCP
|
Nigro, Vincenzo
|
|
1992
|
1 |
7 |
p. 517-520
|
artikel
|
| 15 |
Dinucleotide repeat polymorphism at the D9SI47E locus
|
Polymeropoulos, Mihael H.
|
|
1992
|
1 |
7 |
p. 549-549
|
artikel
|
| 16 |
Dinucleotide repeat polymorphism at the D7S476 locus
|
Xiao, Hong
|
|
1992
|
1 |
7 |
p. 549-549
|
artikel
|
| 17 |
Dinucleotide repeat polymorphism at the D18S19 locus
|
W.Bare, John
|
|
1992
|
1 |
7 |
p. 553-553
|
artikel
|
| 18 |
Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)
|
Velasco, Eladio
|
|
1992
|
1 |
7 |
p. 552-552
|
artikel
|
| 19 |
Dinucleotide repeat polymorphism in the human thyroid hormone receptor α gene (THRA1) on chromosome 17
|
Sakurai, A.
|
|
1992
|
1 |
7 |
p. 553-553
|
artikel
|
| 20 |
Dinucleotide repeat polymorphisms at the D11S439 and HBB loci
|
Hauge, X. Y.
|
|
1992
|
1 |
7 |
p. 548-548
|
artikel
|
| 21 |
Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1
|
Rosen, D.R.
|
|
1992
|
1 |
7 |
p. 547-547
|
artikel
|
| 22 |
Erratum
|
Tamaki, K.
|
|
1992
|
1 |
7 |
p. 558-558
|
artikel
|
| 23 |
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
|
Górecki, Dariusz C.
|
|
1992
|
1 |
7 |
p. 505-510
|
artikel
|
| 24 |
Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28
|
Kaneko, Kiyotoshi
|
|
1992
|
1 |
7 |
p. 529-533
|
artikel
|
| 25 |
Mismatch PCR: a rapid method to screen for the Pro207 → Leu mutation in the lipoprotein lipase (LPL) gene
|
M.Bijvoet, Saskia
|
|
1992
|
1 |
7 |
p. 541-541
|
artikel
|
| 26 |
Mutations in the candidate gene for Norrie disease
|
Berger, Wolfgang
|
|
1992
|
1 |
7 |
p. 461-465
|
artikel
|
| 27 |
Oligonucleotide probes for the analysis of specific repetitive DNA sequences by fluorescence in situ hybridization
|
Matera, A. Gregory
|
|
1992
|
1 |
7 |
p. 535-539
|
artikel
|
| 28 |
Segregation of the fragile X mutation from an affected male to his normal daughter
|
Willems, Patrick J.
|
|
1992
|
1 |
7 |
p. 511-515
|
artikel
|
| 29 |
Taql polymorphisms at the annexin VIII locus (ANX8)
|
Chambers, J.A.
|
|
1992
|
1 |
7 |
p. 550-550
|
artikel
|
| 30 |
The genomic structure of the human skeletal muscle sodium channel gene
|
I.McClatchey, Andrea
|
|
1992
|
1 |
7 |
p. 521-527
|
artikel
|
| 31 |
The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor
|
Christiano, Angela M.
|
|
1992
|
1 |
7 |
p. 475-481
|
artikel
|
| 32 |
Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
|
Shelbourne, Peggy
|
|
1992
|
1 |
7 |
p. 467-473
|
artikel
|
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