Found: 53
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Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1263
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- Article
SSCP at the HTR1DA locus.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1444
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Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1239
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Author index.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1447
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- Article
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1446
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A (GA)n repeat polymorphism in the human protamine 2 (PRM 2) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1445
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Dinucleotide repeat polymorphism at the CHRND locus.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1445
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- Article
Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1259
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Ddel polymorphism in the AGTR1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1444
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An A to G polymorphism in the SHBG gene.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1443
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Two dinucleotide repeat polymorphisms at 17p13.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1443
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An Rsa\ polymorphism for the fibrillin gene (FBN1).
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1442
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- Article
Dinucleotide repeat polymorphism at the DXS1684 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1442
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Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1441
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- Article
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1439
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- Article
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1437
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- Article
Complete mtDNA sequence of a patient in a maternal pedigree with sensorineruar deatiness.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1435
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- Article
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1433
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- Article
A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1431
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- Article
Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1429
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- Article
A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1427
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Are CpG sites mutation hot spots in the dystrophin gene?
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1425
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A novel mutation in the von Hippel — Lindau gene.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1423
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Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1421
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- Article
A calcium channel mutation causing hypokalemic periodic paralysis.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1415
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Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1409
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Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1405
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Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1401
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Characterization of a new member of the human /-adaptin gene family from chromosome 22q12, a candidate meningioma gene.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1393
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Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1387
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Addition of functional human telomeres to YACs.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1383
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Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1377
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Early embryonic failure associated with uniparental disomy for human chromosome 21.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1373
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The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1365
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Isolation of a diverged homeobox gene, M0X1, from the BRCA1 region on 17q21 by solution hybrid capture.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1359
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Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1355
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Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1345
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Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1341
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Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1337
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Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1331
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Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1325
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The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1317
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- Article
Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1309
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Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1303
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Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1297
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Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1287
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- Article
Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1281
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- Article
Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1275
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- Article
Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1269
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- Article
Distribution of CENP-B boxes reflected in CREST centromere antigenic sites on long-range α-satellite DNA arrays of human chromosome 21.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1245
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- Article