Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 1
Results: 16
Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 59
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- Publication type:
- Article
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 51
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- Publication type:
- Article
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 45
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- Article
Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 37
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- Publication type:
- Article
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 31
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- Publication type:
- Article
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
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- Human Molecular Genetics, 1995, v. 4, n. 1, p. 19
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- Article
Expression of the mutant allele of IT-15 (the HD gene) in striatum and cortex of Huntington's disease patients.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 15
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- Article
Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 147
- Publication type:
- Article
Deficiency of lecithin: cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 143
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- Publication type:
- Article
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 141
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- Publication type:
- Article
High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 137
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- Publication type:
- Article
A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 135
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- Publication type:
- Article
Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 129
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- Publication type:
- Article
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 121
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- Publication type:
- Article
Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 113
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- Publication type:
- Article
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 109
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- Publication type:
- Article