| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
|
Nichols, B.E.
|
|
1993
|
2 |
5 |
p. 601-603
|
artikel
|
| 2 |
A complex dinucleotide repeat polymorphism in the human Na+K+ATPass alpha subunit (ATP1A2) gene
|
Lim, Lionel C.C.
|
|
1993
|
2 |
5 |
p. 616-616
|
artikel
|
| 3 |
A dinucleotide repeat polymorphism in the gene for the γ subunit of the human Fcε receptors (FLER16)
|
Brini, Anna T.
|
|
1993
|
2 |
5 |
p. 619-619
|
artikel
|
| 4 |
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene
|
Tupler, R.
|
|
1993
|
2 |
5 |
p. 620-620
|
artikel
|
| 5 |
Allele-specific MVR-PCR analysis at minisatellite D1S8
|
Monckton, Darren G.
|
|
1993
|
2 |
5 |
p. 513-519
|
artikel
|
| 6 |
An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient
|
Boye, E.
|
|
1993
|
2 |
5 |
p. 595-596
|
artikel
|
| 7 |
A new probe detecting HLA-8 gene polymorphism
|
Alizadeh, M.
|
|
1993
|
2 |
5 |
p. 617-617
|
artikel
|
| 8 |
A novel mutation of the APC (adenomatous polyposis coli) gene in a familial adenomatous polyposis (FAP) patient and presymptomatic diagnosis using PCR
|
Ichii, Shigetoshi
|
|
1993
|
2 |
5 |
p. 597-597
|
artikel
|
| 9 |
Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site
|
Tinsley, Jonathon M.
|
|
1993
|
2 |
5 |
p. 521-524
|
artikel
|
| 10 |
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria
|
Goltsov, Alexei A.
|
|
1993
|
2 |
5 |
p. 577-581
|
artikel
|
| 11 |
Author index
|
|
|
1993
|
2 |
5 |
p. 631-631
|
artikel
|
| 12 |
Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes
|
Lengauer, Christoph
|
|
1993
|
2 |
5 |
p. 505-512
|
artikel
|
| 13 |
Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes
|
Fernie, B.A.
|
|
1993
|
2 |
5 |
p. 591-592
|
artikel
|
| 14 |
Deletions in the prion protein gene are not associated with CJD
|
Palmer, Mark S.
|
|
1993
|
2 |
5 |
p. 541-544
|
artikel
|
| 15 |
Dinculeotide repeat polymorphism in the HOX4E locus
|
Rosen, D.R.
|
|
1993
|
2 |
5 |
p. 617-617
|
artikel
|
| 16 |
Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4
|
Overbeck, Larry D.
|
|
1993
|
2 |
5 |
p. 611-611
|
artikel
|
| 17 |
Dinucleotide repeat polymorphism at D21S49 (21 q22.3)
|
Bespalova, I.N.
|
|
1993
|
2 |
5 |
p. 613-613
|
artikel
|
| 18 |
Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene
|
Goto, J.
|
|
1993
|
2 |
5 |
p. 616-616
|
artikel
|
| 19 |
Dinucleotide repeat polymorphism at the DXS1111 locus
|
Browne, D.L.
|
|
1993
|
2 |
5 |
p. 611-611
|
artikel
|
| 20 |
Dinucleotide repeat polymorphism at the DXS556 locus
|
Thiselton, D.L.
|
|
1993
|
2 |
5 |
p. 613-613
|
artikel
|
| 21 |
Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13
|
McDonald, M.T.
|
|
1993
|
2 |
5 |
p. 619-619
|
artikel
|
| 22 |
Dinucleotide repeat polymorphism at Xq26.1 (DXS1114)
|
Weber, C.
|
|
1993
|
2 |
5 |
p. 612-612
|
artikel
|
| 23 |
Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113)
|
Weber, C.
|
|
1993
|
2 |
5 |
p. 612-612
|
artikel
|
| 24 |
Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)
|
Carrozzo, Romeo
|
|
1993
|
2 |
5 |
p. 615-615
|
artikel
|
| 25 |
Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach
|
Fairweather, Nicholas
|
|
1993
|
2 |
5 |
p. 607-608
|
artikel
|
| 26 |
Five novel factor IX mutations in unrelated hemophilia B families
|
Chen, Shi-Han
|
|
1993
|
2 |
5 |
p. 599-600
|
artikel
|
| 27 |
Five sequence tagged sites for human chromosome band 11 q23
|
Perry, H.
|
|
1993
|
2 |
5 |
p. 614-614
|
artikel
|
| 28 |
Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome
|
Soussi-Yanicostas, Nadia
|
|
1993
|
2 |
5 |
p. 563-569
|
artikel
|
| 29 |
Frequencies of human keratin 10 alleles
|
Mischke, Dietmar
|
|
1993
|
2 |
5 |
p. 618-618
|
artikel
|
| 30 |
Genomic organization of exons 22 to 25 of the dystrophin gene
|
Bebchuk, Karen G.
|
|
1993
|
2 |
5 |
p. 593-594
|
artikel
|
| 31 |
In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease
|
Bernardi, F.
|
|
1993
|
2 |
5 |
p. 545-548
|
artikel
|
| 32 |
Isolation of cosmids and fetal brain cDNAs from the proximal long arm of human chromosome 22
|
Lamour, Valérie
|
|
1993
|
2 |
5 |
p. 535-540
|
artikel
|
| 33 |
Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F
|
Gasparini, Paolo
|
|
1993
|
2 |
5 |
p. 571-576
|
artikel
|
| 34 |
Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
|
Weksberg, R.
|
|
1993
|
2 |
5 |
p. 549-556
|
artikel
|
| 35 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
2 |
5 |
p. 621-629
|
artikel
|
| 36 |
Quantification of tRNA3243Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription
|
Suomalainen, Anu
|
|
1993
|
2 |
5 |
p. 525-534
|
artikel
|
| 37 |
Rapid detection of the hypertension-associated Met235→ Thr allele of the human angiotensinogen gene
|
Russ, Andreas P.
|
|
1993
|
2 |
5 |
p. 609-610
|
artikel
|
| 38 |
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
|
Wedell, Anna
|
|
1993
|
2 |
5 |
p. 499-504
|
artikel
|
| 39 |
Tetranucleotide repeat polymorphism at the D8S307 locus
|
Ward, Kenneth
|
|
1993
|
2 |
5 |
p. 615-615
|
artikel
|
| 40 |
The needle found!!! Trinucleotide repeat expansion in the Huntington's disease gene
|
Willard, Huntington F.
|
|
1993
|
2 |
5 |
p. 497-498
|
artikel
|
| 41 |
Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199)
|
Graw, Sharon L.
|
|
1993
|
2 |
5 |
p. 614-614
|
artikel
|
| 42 |
Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene
|
Perry, D.J.
|
|
1993
|
2 |
5 |
p. 618-618
|
artikel
|
| 43 |
X-linked liver glycogenosis: localization and isolation of a candidate gene
|
Hendrickx, Jan
|
|
1993
|
2 |
5 |
p. 583-589
|
artikel
|
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