| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allelic association and linkage studies in Wilson disease
|
Thomas, Gordon R.
|
|
1993
|
2 |
9 |
p. 1401-1405
|
artikel
|
| 2 |
An EcoRI polymorphism within the dipeptidyl peptidase IV (DPPIV) gene
|
Abbott, C.A.
|
|
1993
|
2 |
9 |
p. 1507-1507
|
artikel
|
| 3 |
A new (old) deletion in the choroideremia gene
|
Pascal, O.
|
|
1993
|
2 |
9 |
p. 1489-1489
|
artikel
|
| 4 |
An Mspl polymorphism at the D7S599E locus
|
Hampson, R.M.
|
|
1993
|
2 |
9 |
p. 1510-1510
|
artikel
|
| 5 |
An Ncil RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11 – 13
|
Dittrich, Bärbel
|
|
1993
|
2 |
9 |
p. 1509-1509
|
artikel
|
| 6 |
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
|
Heine, Roland
|
|
1993
|
2 |
9 |
p. 1349-1353
|
artikel
|
| 7 |
A novel splicing abnormality in a Japanese patient with Gaucher's disease
|
Ohshlma, Toshio
|
|
1993
|
2 |
9 |
p. 1497-1498
|
artikel
|
| 8 |
A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family
|
Morell, Robert
|
|
1993
|
2 |
9 |
p. 1487-1488
|
artikel
|
| 9 |
A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism
|
Spritz, R.A.
|
|
1993
|
2 |
9 |
p. 1499-1500
|
artikel
|
| 10 |
Author index
|
|
|
1993
|
2 |
9 |
p. 1521-1521
|
artikel
|
| 11 |
Characterization of chromosome 9 deletions in transitional cell carcinoma by microsatellite assay
|
Llnnenbach, Alban J.
|
|
1993
|
2 |
9 |
p. 1407-1411
|
artikel
|
| 12 |
Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12
|
Xle, Ya-Gang
|
|
1993
|
2 |
9 |
p. 1361-1368
|
artikel
|
| 13 |
Correct usage of a mutated G+1 splice site and transcript quantitation in a lipoprotein lipase-deficient patient
|
Pepe, Gabriella
|
|
1993
|
2 |
9 |
p. 1455-1459
|
artikel
|
| 14 |
Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII
|
Takamlya, Osamu
|
|
1993
|
2 |
9 |
p. 1355-1359
|
artikel
|
| 15 |
Dinucleotide repeat polymorphism at the KCNA5 locus
|
Phromchotikul, T.
|
|
1993
|
2 |
9 |
p. 1512-1512
|
artikel
|
| 16 |
Dinucleotide repeat polymorphism in the inter-feron-gamma (IFNG) gene
|
Rulz-Linares, A.
|
|
1993
|
2 |
9 |
p. 1508-1508
|
artikel
|
| 17 |
Dinucleotide repeat polymorphism in the promoter region of neurotrophin-3 gene (NT3)
|
Hattori, M.
|
|
1993
|
2 |
9 |
p. 1511-1511
|
artikel
|
| 18 |
EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC)
|
Gibson, Rachel A.
|
|
1993
|
2 |
9 |
p. 1509-1509
|
artikel
|
| 19 |
Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1
|
Cancel, Géraldine
|
|
1993
|
2 |
9 |
p. 1477-1479
|
artikel
|
| 20 |
Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin
|
Zühike, Christine
|
|
1993
|
2 |
9 |
p. 1467-1469
|
artikel
|
| 21 |
Five dinucleotide repeat polymorphisms on human chromosome 16q24.2 – q24.3
|
Shen, Y.
|
|
1993
|
2 |
9 |
p. 1504-1504
|
artikel
|
| 22 |
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins
|
Richards, R.I.
|
|
1993
|
2 |
9 |
p. 1429-1435
|
artikel
|
| 23 |
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus
|
Stevanin, Glovanni
|
|
1993
|
2 |
9 |
p. 1483-1485
|
artikel
|
| 24 |
Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3
|
Winderickx, Joris
|
|
1993
|
2 |
9 |
p. 1413-1421
|
artikel
|
| 25 |
Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria
|
Todd, David J.
|
|
1993
|
2 |
9 |
p. 1495-1496
|
artikel
|
| 26 |
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
|
Anvret, M.
|
|
1993
|
2 |
9 |
p. 1397-1400
|
artikel
|
| 27 |
Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome
|
Kenwrick, Susan
|
|
1993
|
2 |
9 |
p. 1461-1462
|
artikel
|
| 28 |
Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients
|
Glenn, Christopher C.
|
|
1993
|
2 |
9 |
p. 1377-1382
|
artikel
|
| 29 |
Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype
|
S.Scott, Hamish
|
|
1993
|
2 |
9 |
p. 1471-1473
|
artikel
|
| 30 |
Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B
|
Hayasaka, Kiyoshi
|
|
1993
|
2 |
9 |
p. 1369-1372
|
artikel
|
| 31 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
2 |
9 |
p. 1515-1520
|
artikel
|
| 32 |
p53 Gain-of-function mutation in codon 175 is a rare event in human breast cancer
|
Runnebaum, I.B.
|
|
1993
|
2 |
9 |
p. 1501-1502
|
artikel
|
| 33 |
Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts
|
Gecz, J.
|
|
1993
|
2 |
9 |
p. 1389-1396
|
artikel
|
| 34 |
Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus
|
Rider, Sue H.
|
|
1993
|
2 |
9 |
p. 1510-1510
|
artikel
|
| 35 |
Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells
|
Yorlfujl, Tohru
|
|
1993
|
2 |
9 |
p. 1443-1448
|
artikel
|
| 36 |
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
|
Azlbi, Kemal
|
|
1993
|
2 |
9 |
p. 1423-1428
|
artikel
|
| 37 |
Single-step screening method for the most common mutations in familial adenomatous polyposis
|
Friedl, Waltraut
|
|
1993
|
2 |
9 |
p. 1481-1482
|
artikel
|
| 38 |
Six dinucleotide repeat polymorphisms on human chromosome 16q12.1 – q24.1
|
Shen, Y.
|
|
1993
|
2 |
9 |
p. 1505-1505
|
artikel
|
| 39 |
Somatic mutations of the APC gene in precancerous lesion of the stomach
|
Nakatsuru, Shulchl
|
|
1993
|
2 |
9 |
p. 1463-1465
|
artikel
|
| 40 |
Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance
|
Carrera, Paola
|
|
1993
|
2 |
9 |
p. 1437-1441
|
artikel
|
| 41 |
Tetranucleotide repeat polymorphism at the D8S320 locus
|
Rlley, Robyn
|
|
1993
|
2 |
9 |
p. 1512-1512
|
artikel
|
| 42 |
The density of transcriptional elements in promoter and non-promoter sequences
|
Prestrldge, Dan S.
|
|
1993
|
2 |
9 |
p. 1449-1453
|
artikel
|
| 43 |
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci
|
Jodice, Caria
|
|
1993
|
2 |
9 |
p. 1383-1387
|
artikel
|
| 44 |
The human D11S554 locus: four distinct families of repeat pattern alleles at one locus
|
Adams, Mala
|
|
1993
|
2 |
9 |
p. 1373-1376
|
artikel
|
| 45 |
Three dinucleotide repeat polymorphisms on human chromosome 16p 13.11–p13.3
|
Shen, Y.
|
|
1993
|
2 |
9 |
p. 1506-1506
|
artikel
|
| 46 |
Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families
|
Nørremølle, Anne
|
|
1993
|
2 |
9 |
p. 1475-1476
|
artikel
|
| 47 |
Trinucleotide repeat polymorphism at D6S366
|
W.Panzer, Shawn
|
|
1993
|
2 |
9 |
p. 1511-1511
|
artikel
|
| 48 |
Trinucleotide repeat polymorphism at DXS101
|
Allen, R.Cutier
|
|
1993
|
2 |
9 |
p. 1508-1508
|
artikel
|
| 49 |
Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis
|
Zhong, Jun
|
|
1993
|
2 |
9 |
p. 1491-1492
|
artikel
|
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