Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 3
Results: 29
Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 471
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Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 465
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Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 459
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A gene responsible for cavernous malformations of the brain maps to chromosome 7q.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 453
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Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 449
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Blepharophimosis syndrome is linked to chromosome 3q.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 443
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Deletion of the C-terminal end of aspartylgiucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 435
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The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 429
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Author index.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 497
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- Article
Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 407
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Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 423
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Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 337
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Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 329
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Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 323
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Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 415
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Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 401
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Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith—Wiedemann syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 395
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Expression of the myotonin protein kinase gene in preimplantation human embryos.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 389
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Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 383
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Cloning of a human homologue of the Xenopus Iaevis APX gene from the ocular albinism type 1 critical region.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 373
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Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 367
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Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 359
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DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 351
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Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 341
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A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 491
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Linkage of posterior polymorphous corneal dystrophy to 20q11.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 485
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A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 493
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Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 489
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Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 479
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