| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A (CA)n repeat polymorphism at the 5′ end of the α1antitrypsin gene (PI)
|
Byth, Barbara C.
|
|
1993
|
2 |
10 |
p. 1752-1752
|
artikel
|
| 2 |
A (CA)n repeat polymorphism in the protein C inhibitor (PCI) gene
|
Byth, Barbara C.
|
|
1993
|
2 |
10 |
p. 1752-1752
|
artikel
|
| 3 |
A dinucleotide repeat polymorphism at the ribosomal protein S6 (RPS6) gene
|
Pata, I.
|
|
1993
|
2 |
10 |
p. 1749-1749
|
artikel
|
| 4 |
Amino acid dimorphism in IL1A is detectable by PCR amplification
|
Velden, Pieter A.v.d.
|
|
1993
|
2 |
10 |
p. 1753-1753
|
artikel
|
| 5 |
Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
|
Rubinsztein, David C.
|
|
1993
|
2 |
10 |
p. 1713-1715
|
artikel
|
| 6 |
A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene
|
Braun, A.
|
|
1993
|
2 |
10 |
p. 1750-1750
|
artikel
|
| 7 |
An STR polymorphism at the CYBB locus
|
Hardwick, L.J.
|
|
1993
|
2 |
10 |
p. 1755-1755
|
artikel
|
| 8 |
A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene
|
Friedman, Eitan
|
|
1993
|
2 |
10 |
p. 1746-1746
|
artikel
|
| 9 |
A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus
|
O'Neal, Wanda K.
|
|
1993
|
2 |
10 |
p. 1561-1569
|
artikel
|
| 10 |
A tight cluster of five unrelated human genes on chromosome 16q22.1
|
Larsen, Frank
|
|
1993
|
2 |
10 |
p. 1589-1595
|
artikel
|
| 11 |
Author index
|
|
|
1993
|
2 |
10 |
p. 1761-1762
|
artikel
|
| 12 |
A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome
|
Tommerup, Niels
|
|
1993
|
2 |
10 |
p. 1571-1575
|
artikel
|
| 13 |
Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element
|
Becker, Kevin G.
|
|
1993
|
2 |
10 |
p. 1697-1702
|
artikel
|
| 14 |
CAT repeat polymorphism in a human expressed sequence tag (EST00444) (D1 3S308)
|
Haddad, Luciana A.
|
|
1993
|
2 |
10 |
p. 1748-1748
|
artikel
|
| 15 |
Characterisation of molecular DNA rearrangements within the Xq12 – q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)
|
Thomas, N.S.T.
|
|
1993
|
2 |
10 |
p. 1679-1685
|
artikel
|
| 16 |
Characterization and chromosomal localization of the human proto-oncogene BMI-1
|
Alkema, Mark
|
|
1993
|
2 |
10 |
p. 1597-1603
|
artikel
|
| 17 |
Characterization of a single base-pair deletion in neurofibromatosis type 1
|
Colman, Seven D.
|
|
1993
|
2 |
10 |
p. 1709-1711
|
artikel
|
| 18 |
Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo
|
Dauwerse, J.G.
|
|
1993
|
2 |
10 |
p. 1527-1534
|
artikel
|
| 19 |
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15
|
Stine, O.Collin
|
|
1993
|
2 |
10 |
p. 1547-1549
|
artikel
|
| 20 |
Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency
|
Ruiz-Pacheco, Rosalia
|
|
1993
|
2 |
10 |
p. 1723-1725
|
artikel
|
| 21 |
Differential 3′ polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression
|
Lin, Blaoyang
|
|
1993
|
2 |
10 |
p. 1541-1545
|
artikel
|
| 22 |
Dinucleotide repeat polymorphism at D11S994 locus
|
Bontekoe, Carola J.M.
|
|
1993
|
2 |
10 |
p. 1747-1747
|
artikel
|
| 23 |
Dinucleotide repeat polymorphism at the D12S371 locus
|
Leutner, Andreas
|
|
1993
|
2 |
10 |
p. 1754-1754
|
artikel
|
| 24 |
Dinucleotide repeat polymorphism at the D18S365 locus
|
Abels, Susanne
|
|
1993
|
2 |
10 |
p. 1747-1747
|
artikel
|
| 25 |
Dinucleotide repeat polymorphism at the D14S294 locus
|
Fu, C.-W.
|
|
1993
|
2 |
10 |
p. 1751-1751
|
artikel
|
| 26 |
Dinucleotide repeat polymorphism at the D5S214 locus
|
Pick, Elke
|
|
1993
|
2 |
10 |
p. 1754-1754
|
artikel
|
| 27 |
Dinucleotide repeat polymorphism at the D22S351 locus
|
Sainz, J.
|
|
1993
|
2 |
10 |
p. 1749-1749
|
artikel
|
| 28 |
Dinucleotide repeat polymorphism in the interferon regulating factor 1 (IRF1) gene
|
Kroef, M.J.P.L.
|
|
1993
|
2 |
10 |
p. 1748-1748
|
artikel
|
| 29 |
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681
|
Morrison, K.E.
|
|
1993
|
2 |
10 |
p. 1753-1753
|
artikel
|
| 30 |
Dinucleotide repeat polymorphisms in the VHL region of human chromosome 3p25
|
Loeb, Deborah
|
|
1993
|
2 |
10 |
p. 1746-1746
|
artikel
|
| 31 |
Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales
|
Cheadle, Jeremy P.
|
|
1993
|
2 |
10 |
p. 1551-1556
|
artikel
|
| 32 |
Duplicated zinc finger protein genes on the proximal short arm of the human X chromosome: isolation, characterization and X-inactivation studies
|
Grelg, Gillian M.
|
|
1993
|
2 |
10 |
p. 1611-1618
|
artikel
|
| 33 |
Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11
|
Wright, Tracy J.
|
|
1993
|
2 |
10 |
p. 1673-1678
|
artikel
|
| 34 |
Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8
|
Tamakl, Keiji
|
|
1993
|
2 |
10 |
p. 1629-1632
|
artikel
|
| 35 |
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
|
Pereira, L.
|
|
1993
|
2 |
10 |
p. 1762-1762
|
artikel
|
| 36 |
Genotype analysis of adult cystic fibrosis patients
|
Férec, Claude
|
|
1993
|
2 |
10 |
p. 1557-1560
|
artikel
|
| 37 |
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
|
Hornstra, Lan K.
|
|
1993
|
2 |
10 |
p. 1659-1665
|
artikel
|
| 38 |
Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells
|
Kraus, Jan P.
|
|
1993
|
2 |
10 |
p. 1633-1638
|
artikel
|
| 39 |
Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization
|
Ibraghimov-Beskrovnaya, Oxana
|
|
1993
|
2 |
10 |
p. 1651-1657
|
artikel
|
| 40 |
Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy
|
Moolman, Johanna C.
|
|
1993
|
2 |
10 |
p. 1731-1732
|
artikel
|
| 41 |
Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype
|
Chillón, Miguel
|
|
1993
|
2 |
10 |
p. 1741-1742
|
artikel
|
| 42 |
Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome
|
Halford, Stephanie
|
|
1993
|
2 |
10 |
p. 1577-1582
|
artikel
|
| 43 |
Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome
|
Aubry, Muriel
|
|
1993
|
2 |
10 |
p. 1583-1587
|
artikel
|
| 44 |
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
|
Othmane, K.Ben
|
|
1993
|
2 |
10 |
p. 1625-1628
|
artikel
|
| 45 |
Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
|
Dunbar, D.R.
|
|
1993
|
2 |
10 |
p. 1619-1624
|
artikel
|
| 46 |
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent
|
Telenius, H.
|
|
1993
|
2 |
10 |
p. 1535-1540
|
artikel
|
| 47 |
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe
|
Guldberg, Per
|
|
1993
|
2 |
10 |
p. 1703-1707
|
artikel
|
| 48 |
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens
|
Osborne, Lucy R.
|
|
1993
|
2 |
10 |
p. 1605-1609
|
artikel
|
| 49 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
2 |
10 |
p. 1757-1760
|
artikel
|
| 50 |
Paternal nondisjunction in trisomy 21: excess of male patients
|
Patersen, Michael B.
|
|
1993
|
2 |
10 |
p. 1691-1695
|
artikel
|
| 51 |
Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region
|
Wijmenga, Cisca
|
|
1993
|
2 |
10 |
p. 1667-1672
|
artikel
|
| 52 |
Population variation in the dinucleotide repeat polymorphism at the D8S360 locus
|
Kamino, Kouzin
|
|
1993
|
2 |
10 |
p. 1751-1751
|
artikel
|
| 53 |
Screening for polymorphism in the tyrosine-sulfated region of human C4
|
Mejia, José
|
|
1993
|
2 |
10 |
p. 1733-1734
|
artikel
|
| 54 |
Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL)
|
Richards, F.M.
|
|
1993
|
2 |
10 |
p. 1750-1750
|
artikel
|
| 55 |
Tetranucleotide repeat polymorphisms at the D8S342, D8S323, D8S345, D8S315 and D8S347 loci on 8q
|
Lu, Jun
|
|
1993
|
2 |
10 |
p. 1743-1743
|
artikel
|
| 56 |
The inv(16) in acute nonlymphocytic leukemia: a turnabout for myosin heavy chain
|
Willard, Huntington F.
|
|
1993
|
2 |
10 |
p. 1525-1526
|
artikel
|
| 57 |
Timing of p53 mutations during astrocytoma tumorigenesis
|
Arco, Aracell del
|
|
1993
|
2 |
10 |
p. 1687-1690
|
artikel
|
| 58 |
Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323
|
Glover, Thomas W.
|
|
1993
|
2 |
10 |
p. 1717-1718
|
artikel
|
| 59 |
Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235)
|
Bosch, Assumpció
|
|
1993
|
2 |
10 |
p. 1744-1744
|
artikel
|
| 60 |
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent
|
Saba, L.
|
|
1993
|
2 |
10 |
p. 1739-1740
|
artikel
|
| 61 |
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria
|
Gu, Xue-Fan
|
|
1993
|
2 |
10 |
p. 1735-1736
|
artikel
|
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