Digital Library
Close Browse articles from a journal
     Journal description
       All volumes of the corresponding journal
         All issues of the corresponding volume
                                       All articles of the corresponding issues
 
                             61 results found
no title author magazine year volume issue page(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
article
2 A (CA)n repeat polymorphism in the protein C inhibitor (PCI) gene Byth, Barbara C.
1993
2 10 p. 1752-1752
article
3 A dinucleotide repeat polymorphism at the ribosomal protein S6 (RPS6) gene Pata, I.
1993
2 10 p. 1749-1749
article
4 Amino acid dimorphism in IL1A is detectable by PCR amplification Velden, Pieter A.v.d.
1993
2 10 p. 1753-1753
article
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
article
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
article
7 An STR polymorphism at the CYBB locus Hardwick, L.J.
1993
2 10 p. 1755-1755
article
8 A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene Friedman, Eitan
1993
2 10 p. 1746-1746
article
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
article
10 A tight cluster of five unrelated human genes on chromosome 16q22.1 Larsen, Frank
1993
2 10 p. 1589-1595
article
11 Author index 1993
2 10 p. 1761-1762
article
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
article
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
article
14 CAT repeat polymorphism in a human expressed sequence tag (EST00444) (D1 3S308) Haddad, Luciana A.
1993
2 10 p. 1748-1748
article
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
article
16 Characterization and chromosomal localization of the human proto-oncogene BMI-1 Alkema, Mark
1993
2 10 p. 1597-1603
article
17 Characterization of a single base-pair deletion in neurofibromatosis type 1 Colman, Seven D.
1993
2 10 p. 1709-1711
article
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
article
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
article
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
article
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
article
22 Dinucleotide repeat polymorphism at D11S994 locus Bontekoe, Carola J.M.
1993
2 10 p. 1747-1747
article
23 Dinucleotide repeat polymorphism at the D12S371 locus Leutner, Andreas
1993
2 10 p. 1754-1754
article
24 Dinucleotide repeat polymorphism at the D18S365 locus Abels, Susanne
1993
2 10 p. 1747-1747
article
25 Dinucleotide repeat polymorphism at the D14S294 locus Fu, C.-W.
1993
2 10 p. 1751-1751
article
26 Dinucleotide repeat polymorphism at the D5S214 locus Pick, Elke
1993
2 10 p. 1754-1754
article
27 Dinucleotide repeat polymorphism at the D22S351 locus Sainz, J.
1993
2 10 p. 1749-1749
article
28 Dinucleotide repeat polymorphism in the interferon regulating factor 1 (IRF1) gene Kroef, M.J.P.L.
1993
2 10 p. 1748-1748
article
29 Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681 Morrison, K.E.
1993
2 10 p. 1753-1753
article
30 Dinucleotide repeat polymorphisms in the VHL region of human chromosome 3p25 Loeb, Deborah
1993
2 10 p. 1746-1746
article
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
article
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
article
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
article
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
article
35 Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome Pereira, L.
1993
2 10 p. 1762-1762
article
36 Genotype analysis of adult cystic fibrosis patients Férec, Claude
1993
2 10 p. 1557-1560
article
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
article
38 Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells Kraus, Jan P.
1993
2 10 p. 1633-1638
article
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
article
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
article
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
article
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
article
43 Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome Aubry, Muriel
1993
2 10 p. 1583-1587
article
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
article
45 Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus Dunbar, D.R.
1993
2 10 p. 1619-1624
article
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
article
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
article
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
article
49 New human DNA polymorphisms submitted to the genome data base 1993
2 10 p. 1757-1760
article
50 Paternal nondisjunction in trisomy 21: excess of male patients Patersen, Michael B.
1993
2 10 p. 1691-1695
article
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
article
52 Population variation in the dinucleotide repeat polymorphism at the D8S360 locus Kamino, Kouzin
1993
2 10 p. 1751-1751
article
53 Screening for polymorphism in the tyrosine-sulfated region of human C4 Mejia, José
1993
2 10 p. 1733-1734
article
54 Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL) Richards, F.M.
1993
2 10 p. 1750-1750
article
55 Tetranucleotide repeat polymorphisms at the D8S342, D8S323, D8S345, D8S315 and D8S347 loci on 8q Lu, Jun
1993
2 10 p. 1743-1743
article
56 The inv(16) in acute nonlymphocytic leukemia: a turnabout for myosin heavy chain Willard, Huntington F.
1993
2 10 p. 1525-1526
article
57 Timing of p53 mutations during astrocytoma tumorigenesis Arco, Aracell del
1993
2 10 p. 1687-1690
article
58 Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323 Glover, Thomas W.
1993
2 10 p. 1717-1718
article
59 Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235) Bosch, Assumpció
1993
2 10 p. 1744-1744
article
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
article
61 Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria Gu, Xue-Fan
1993
2 10 p. 1735-1736
article
                             61 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands