| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal mRNA splicing resulting from three different mutations in the CFTR gene
|
Hull, Jeremy
|
|
1993
|
2 |
6 |
p. 689-692
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 6 |
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene
|
Lichter, Jay B.
|
|
1993
|
2 |
6 |
p. 767-773
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 9 |
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
|
Jeanpierre, M.
|
|
1993
|
2 |
6 |
p. 731-735
|
artikel
|
| 10 |
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene
|
Gibson, Rachel A.
|
|
1993
|
2 |
6 |
p. 797-799
|
artikel
|
| 11 |
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease
|
Goldberg, Y.Paul
|
|
1993
|
2 |
6 |
p. 635-636
|
artikel
|
| 12 |
A polymorphic dinucleotide repeat at the D8S339 locus
|
Thomas, Winston
|
|
1993
|
2 |
6 |
p. 828-828
|
artikel
|
| 13 |
A Scal RFLP at the E-selectin (SELE) locus in a progeria family
|
Warnecke, Peter
|
|
1993
|
2 |
6 |
p. 825-825
|
artikel
|
| 14 |
A simple non-radioactive method for diagnosis of Huntington's disease
|
Valdes, John M.
|
|
1993
|
2 |
6 |
p. 633-634
|
artikel
|
| 15 |
Author index
|
|
|
1993
|
2 |
6 |
p. 845-845
|
artikel
|
| 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
|
artikel
|
| 17 |
(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3
|
Weber, Bernhard
|
|
1993
|
2 |
6 |
p. 827-827
|
artikel
|
| 18 |
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
|
Winnard, Alissa V.
|
|
1993
|
2 |
6 |
p. 737-744
|
artikel
|
| 19 |
Cloning and analysis of the murine Fanconi anemia group C cDNA
|
Wevrick, Rachel
|
|
1993
|
2 |
6 |
p. 655-662
|
artikel
|
| 20 |
1448C mutation linked to the Pv1. 1− genotype in Italian patients with Gaucher disease
|
Tuteja, Renu
|
|
1993
|
2 |
6 |
p. 781-784
|
artikel
|
| 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
|
artikel
|
| 22 |
Dinucleotide repeat polymorphism at the D9S126 locus (9p21)
|
Fountain, Jane W.
|
|
1993
|
2 |
6 |
p. 823-823
|
artikel
|
| 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
|
artikel
|
| 24 |
Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene
|
Pérez-Jurado, Luis A.
|
|
1993
|
2 |
6 |
p. 827-827
|
artikel
|
| 25 |
Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH)
|
Whitcombe, D.M.
|
|
1993
|
2 |
6 |
p. 826-826
|
artikel
|
| 26 |
Dinucleotide repeat polymorphism in the human CD40 ligand gene
|
Allen, R.Cutler
|
|
1993
|
2 |
6 |
p. 828-828
|
artikel
|
| 27 |
Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)
|
Roux, Anne-Françoise
|
|
1993
|
2 |
6 |
p. 821-821
|
artikel
|
| 28 |
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus
|
Velonà, I.
|
|
1993
|
2 |
6 |
p. 829-829
|
artikel
|
| 29 |
Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo
|
Dunckley, Matthew G.
|
|
1993
|
2 |
6 |
p. 717-723
|
artikel
|
| 30 |
D11S971 CATT polymorphism (RC27) located near the MEN1 locus at 11q13
|
Krebs, Christopher J.
|
|
1993
|
2 |
6 |
p. 825-825
|
artikel
|
| 31 |
Evolutionary conservation of possible functional domains of the human and murine XIST genes
|
Hendrich, Brian D.
|
|
1993
|
2 |
6 |
p. 663-672
|
artikel
|
| 32 |
Exon skipping in the E-cadherin gene transcript in metastatic human gastric carcinomas
|
Becker, Karl-F.
|
|
1993
|
2 |
6 |
p. 803-804
|
artikel
|
| 33 |
Fine mapping of the human SCIDX1 locus at Xq12–13.1
|
Markiewicz, Sophie
|
|
1993
|
2 |
6 |
p. 651-654
|
artikel
|
| 34 |
Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease
|
Riess, Olaf
|
|
1993
|
2 |
6 |
p. 637-637
|
artikel
|
| 35 |
Intergenerational stability of the myotonic dystrophy protomutation
|
Barceló, Juana M.
|
|
1993
|
2 |
6 |
p. 705-709
|
artikel
|
| 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
|
artikel
|
| 37 |
Molecular defect in a patient with pyridoxine-responsive homocystinuria
|
Kozich, Viktor
|
|
1993
|
2 |
6 |
p. 815-816
|
artikel
|
| 38 |
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters
|
Cobo, A.
|
|
1993
|
2 |
6 |
p. 711-715
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 41 |
Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1α subunit
|
Hansen, L.L.
|
|
1993
|
2 |
6 |
p. 805-807
|
artikel
|
| 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
|
artikel
|
| 43 |
Simple sequence repeat polymorphism in the cartilage matrix protein (CRTM) gene at 1p35
|
Fujimori, Minoru
|
|
1993
|
2 |
6 |
p. 824-824
|
artikel
|
| 44 |
Six dinucleotide microsatellite polymorphisms on human chromosome 3
|
Schmidt, Laura
|
|
1993
|
2 |
6 |
p. 817-818
|
artikel
|
| 45 |
Taql and Rsal polymorphisms in the H19 gene (D11S813E)
|
Redeker, E.
|
|
1993
|
2 |
6 |
p. 823-823
|
artikel
|
| 46 |
Taql polymorphism in the human thyrotropin receptor gene (TSHR)
|
Luo, W.
|
|
1993
|
2 |
6 |
p. 826-826
|
artikel
|
| 47 |
Taql RFLP at norepinephrine transporter protein (NET) locus
|
Gelernter, Joel
|
|
1993
|
2 |
6 |
p. 820-820
|
artikel
|
| 48 |
Testis-Specific, alternative splicing of rodent CFTR mRNA
|
Trezsie, Ann E.O.
|
|
1993
|
2 |
6 |
p. 801-802
|
artikel
|
| 49 |
The cloning and expression of a sodium channel β1-subunit cDNA from human brain
|
McClatchey, Andrea I.
|
|
1993
|
2 |
6 |
p. 745-749
|
artikel
|
| 50 |
The effect of Robertsonian translocation on recombination on chromosome 21
|
Wolff, Daynna J.
|
|
1993
|
2 |
6 |
p. 693-699
|
artikel
|
| 51 |
Three tetrameric repeat polymorphisms on human chromosome 3: D3S1349; D3S1350; D3S1351
|
Li, Hua
|
|
1993
|
2 |
6 |
p. 819-819
|
artikel
|
| 52 |
Trinucleotide repeat polymorphism at the D5S373 locus
|
Dixon, Jill
|
|
1993
|
2 |
6 |
p. 829-829
|
artikel
|
| 53 |
Two independent polymorphisms at the 17β-hydroxysteroid dehydrogenase (EDH17B) gene (17q21)
|
Friedman, Lori S.
|
|
1993
|
2 |
6 |
p. 821-821
|
artikel
|
| 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
|
artikel
|
| 55 |
Unusual length polymorphism in human steroid 5α-reductase type 2 gene (SRD5A2)
|
Davis, Daphne L.
|
|
1993
|
2 |
6 |
p. 820-820
|
artikel
|
| 56 |
YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region
|
Pengue, Gina
|
|
1993
|
2 |
6 |
p. 791-796
|
artikel
|
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