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
 
                             56 results found
no title author magazine year volume issue page(s) type
1 Abnormal mRNA splicing resulting from three different mutations in the CFTR gene Hull, Jeremy
1993
2 6 p. 689-692
article
2 A complex single strand conformational polymorphism (SSCP) in the tumor necrosis factor receptor 2 (TNFR2) gene on chromosome 1p36.2 Kaufman, Bruce A.
1993
2 6 p. 824-824
article
3 A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1 Pandolfo, M.
1993
2 6 p. 822-822
article
4 A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus Watson, Carolyn J.
1993
2 6 p. 701-704
article
5 A gene from chromosome 4p 16.3 with similarity to a superfamily of transporter proteins Duyao, Mabel P.
1993
2 6 p. 673-676
article
6 A hypervariable segment in the human dopamine receptor D4 (DRD4) gene Lichter, Jay B.
1993
2 6 p. 767-773
article
7 Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations Zielenski, Julian
1993
2 6 p. 683-687
article
8 Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain Affara, Nabeel A.
1993
2 6 p. 785-789
article
9 An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome Jeanpierre, M.
1993
2 6 p. 731-735
article
10 A nonsense mutation and exon skipping in the Fanconi anaemia group C gene Gibson, Rachel A.
1993
2 6 p. 797-799
article
11 A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease Goldberg, Y.Paul
1993
2 6 p. 635-636
article
12 A polymorphic dinucleotide repeat at the D8S339 locus Thomas, Winston
1993
2 6 p. 828-828
article
13 A Scal RFLP at the E-selectin (SELE) locus in a progeria family Warnecke, Peter
1993
2 6 p. 825-825
article
14 A simple non-radioactive method for diagnosis of Huntington's disease Valdes, John M.
1993
2 6 p. 633-634
article
15 Author index 1993
2 6 p. 845-845
article
16 Autosomal dominant ‘sector’ retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin Kranich, Holger
1993
2 6 p. 813-814
article
17 (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3 Weber, Bernhard
1993
2 6 p. 827-827
article
18 Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy Winnard, Alissa V.
1993
2 6 p. 737-744
article
19 Cloning and analysis of the murine Fanconi anemia group C cDNA Wevrick, Rachel
1993
2 6 p. 655-662
article
20 1448C mutation linked to the Pv1. 1− genotype in Italian patients with Gaucher disease Tuteja, Renu
1993
2 6 p. 781-784
article
21 Denaturing gradient gel electrophoresis (DGGE) assay for K-ras and N-ras genes: detection of K-ras point mutations in human lung tumour DNA Ridanpää, Maaret
1993
2 6 p. 639-644
article
22 Dinucleotide repeat polymorphism at the D9S126 locus (9p21) Fountain, Jane W.
1993
2 6 p. 823-823
article
23 Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR) Dahl, S.Pieke
1993
2 6 p. 822-822
article
24 Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene Pérez-Jurado, Luis A.
1993
2 6 p. 827-827
article
25 Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH) Whitcombe, D.M.
1993
2 6 p. 826-826
article
26 Dinucleotide repeat polymorphism in the human CD40 ligand gene Allen, R.Cutler
1993
2 6 p. 828-828
article
27 Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110) Roux, Anne-Françoise
1993
2 6 p. 821-821
article
28 Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus Velonà, I.
1993
2 6 p. 829-829
article
29 Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo Dunckley, Matthew G.
1993
2 6 p. 717-723
article
30 D11S971 CATT polymorphism (RC27) located near the MEN1 locus at 11q13 Krebs, Christopher J.
1993
2 6 p. 825-825
article
31 Evolutionary conservation of possible functional domains of the human and murine XIST genes Hendrich, Brian D.
1993
2 6 p. 663-672
article
32 Exon skipping in the E-cadherin gene transcript in metastatic human gastric carcinomas Becker, Karl-F.
1993
2 6 p. 803-804
article
33 Fine mapping of the human SCIDX1 locus at Xq12–13.1 Markiewicz, Sophie
1993
2 6 p. 651-654
article
34 Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease Riess, Olaf
1993
2 6 p. 637-637
article
35 Intergenerational stability of the myotonic dystrophy protomutation Barceló, Juana M.
1993
2 6 p. 705-709
article
36 Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7 Maestrini, E.
1993
2 6 p. 761-766
article
37 Molecular defect in a patient with pyridoxine-responsive homocystinuria Kozich, Viktor
1993
2 6 p. 815-816
article
38 Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters Cobo, A.
1993
2 6 p. 711-715
article
39 Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments Bernards, Andre
1993
2 6 p. 645-650
article
40 Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene Lázaro, Conxi
1993
2 6 p. 725-730
article
41 Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1α subunit Hansen, L.L.
1993
2 6 p. 805-807
article
42 Refined localization and yeast artificial chromosome (YAC) contig—mapping of genes and DNA segments in the 7q21–q32 region Scherer, Stephen W.
1993
2 6 p. 751-760
article
43 Simple sequence repeat polymorphism in the cartilage matrix protein (CRTM) gene at 1p35 Fujimori, Minoru
1993
2 6 p. 824-824
article
44 Six dinucleotide microsatellite polymorphisms on human chromosome 3 Schmidt, Laura
1993
2 6 p. 817-818
article
45 Taql and Rsal polymorphisms in the H19 gene (D11S813E) Redeker, E.
1993
2 6 p. 823-823
article
46 Taql polymorphism in the human thyrotropin receptor gene (TSHR) Luo, W.
1993
2 6 p. 826-826
article
47 Taql RFLP at norepinephrine transporter protein (NET) locus Gelernter, Joel
1993
2 6 p. 820-820
article
48 Testis-Specific, alternative splicing of rodent CFTR mRNA Trezsie, Ann E.O.
1993
2 6 p. 801-802
article
49 The cloning and expression of a sodium channel β1-subunit cDNA from human brain McClatchey, Andrea I.
1993
2 6 p. 745-749
article
50 The effect of Robertsonian translocation on recombination on chromosome 21 Wolff, Daynna J.
1993
2 6 p. 693-699
article
51 Three tetrameric repeat polymorphisms on human chromosome 3: D3S1349; D3S1350; D3S1351 Li, Hua
1993
2 6 p. 819-819
article
52 Trinucleotide repeat polymorphism at the D5S373 locus Dixon, Jill
1993
2 6 p. 829-829
article
53 Two independent polymorphisms at the 17β-hydroxysteroid dehydrogenase (EDH17B) gene (17q21) Friedman, Lori S.
1993
2 6 p. 821-821
article
54 Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion Morral, Núria
1993
2 6 p. 677-681
article
55 Unusual length polymorphism in human steroid 5α-reductase type 2 gene (SRD5A2) Davis, Daphne L.
1993
2 6 p. 820-820
article
56 YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region Pengue, Gina
1993
2 6 p. 791-796
article
                             56 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands