Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 6
Results: 17
Karen Steinberg: The Genetic Basis of Cancer [CD Rom]: Oxford University Press (2001) CD Rom, ISBN 0-19-512675-0, CD Rom, £65.00.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 681, doi. 10.1007/s00439-001-0623-0
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- Publication type:
- Article
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.
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- Human Genetics, 2001, v. 109, n. 6, p. 638, doi. 10.1007/s00439-001-0626-x
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- Publication type:
- Article
A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 628, doi. 10.1007/s00439-001-0613-2
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- Article
Krystyne E. Wisniewski and Nanbert Zhong (eds): Batten disease: diagnosis, treatment and research. (Advances in Genetics, vol 45): Academic, London (2001) 243 pages (ISBN 0-12-017645-9) £59.95.
- Published in:
- 2001
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- Publication type:
- Book Review
Mutation spectrum and splicing variants in the OPA1 gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 584, doi. 10.1007/s00439-001-0633-y
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- Publication type:
- Article
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 569, doi. 10.1007/s004390100607
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- Publication type:
- Article
Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 659, doi. 10.1007/s00439-001-0627-9
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- Publication type:
- Article
A new strategy for the detection of subtelomeric rearrangements.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 576, doi. 10.1007/s00439-001-0629-7
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- Publication type:
- Article
The HUGO Gene Nomenclature Committee (HGNC).
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 678, doi. 10.1007/s00439-001-0615-0
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- Publication type:
- Article
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 653, doi. 10.1007/s00439-001-0644-8
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- Publication type:
- Article
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 646, doi. 10.1007/s00439-001-0614-1
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- Publication type:
- Article
Christopher Gillberg and Mary Coleman: The biology of the autistic syndromes, 3rd edn: Cambridge University Press, Cambridge (2000) 330 pages (ISBN 1-898-68322-0) £60.00, $95.00.
- Published in:
- 2001
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- Publication type:
- Book Review
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 592, doi. 10.1007/s00439-001-0631-0
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- Publication type:
- Article
ASP – a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 675, doi. 10.1007/s00439-001-0634-x
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- Publication type:
- Article
TGFβ1 allele association with asthma severity.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 623, doi. 10.1007/s00439-001-0617-y
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- Publication type:
- Article
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 616, doi. 10.1007/s00439-001-0632-z
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- Publication type:
- Article
The molecular basis of familial hypercholesterolemia in The Netherlands.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 602, doi. 10.1007/s00439-001-0628-8
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- Publication type:
- Article