Works matching IS 03406717 AND DT 2003 AND VI 112 AND IP 4
Results: 21
The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 430, doi. 10.1007/s00439-002-0903-3
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- Article
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
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- Human Genetics, 2003, v. 112, n. 4, p. 364, doi. 10.1007/s00439-003-0909-5
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- Article
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
- Published in:
- 2003
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- Publication type:
- Erratum
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.
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- Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0
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- Article
Skin pigmentation, biogeographical ancestry and admixture mapping.
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- Human Genetics, 2003, v. 112, n. 4, p. 387, doi. 10.1007/s00439-002-0896-y
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- Article
Nucleotide and haplotypic diversity of the NOS2A promoter region and its relationship to cerebral malaria.
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- Human Genetics, 2003, v. 112, n. 4, p. 379, doi. 10.1007/s00439-002-0882-4
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- Article
The future of association studies of common cancers.
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- Human Genetics, 2003, v. 112, n. 4, p. 434, doi. 10.1007/s00439-002-0902-4
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- Article
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter.
- Published in:
- 2003
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- Publication type:
- Erratum
Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 400, doi. 10.1007/s00439-002-0898-9
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- Publication type:
- Article
An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.
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- Human Genetics, 2003, v. 112, n. 4, p. 419, doi. 10.1007/s00439-002-0900-6
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- Publication type:
- Article
C.W.R.J. Cremers, R.J.H. Smith (eds): Genetic hearing impairment—it's clinical presentations. Advances in Oto-Rhino-Laryngology, Vol 61 (Series ed: W. Arnold): Karger, 2002 (ISBN 3-8055-7449-5) hardcover, EUR 160, US$ 195.
- Published in:
- 2003
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- Publication type:
- Book Review
Biallelic expression of HRAS and MUCDHL in human and mouse.
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- Human Genetics, 2003, v. 112, n. 4, p. 334, doi. 10.1007/s00439-003-0907-7
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- Publication type:
- Article
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
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- Human Genetics, 2003, v. 112, n. 4, p. 404, doi. 10.1007/s00439-003-0906-8
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- Publication type:
- Article
Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
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- Human Genetics, 2003, v. 112, n. 4, p. 343, doi. 10.1007/s00439-002-0885-1
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- Publication type:
- Article
High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis.
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- Human Genetics, 2003, v. 112, n. 4, p. 353, doi. 10.1007/s00439-003-0913-9
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- Publication type:
- Article
Linkage analysis of prostate cancer susceptibility: confirmation of linkage at 8p22–23.
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- Human Genetics, 2003, v. 112, n. 4, p. 414, doi. 10.1007/s00439-003-0916-6
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- Publication type:
- Article
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.
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- Human Genetics, 2003, v. 112, n. 4, p. 348, doi. 10.1007/s00439-002-0897-x
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- Publication type:
- Article
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
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- Human Genetics, 2003, v. 112, n. 4, p. 329, doi. 10.1007/s00439-002-0889-x
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- Publication type:
- Article
The interleukin-6 (-174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians.
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- Human Genetics, 2003, v. 112, n. 4, p. 409, doi. 10.1007/s00439-003-0912-x
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- Publication type:
- Article
Structural and molecular basis of skeletal muscle diseases: George Karpati (volume editor), Maria Molnar, Hans H. Goebel, Kiichi Arahata, Alan E. H. Emery, Eric Hoffman, Eric Shoubridge (advisory editors) ISN Neuropath Press Basel, ISBN 3-952-23130-4, 311 pages, 85.00$
- Published in:
- 2003
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- Publication type:
- Book Review
Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.
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- Human Genetics, 2003, v. 112, n. 4, p. 369, doi. 10.1007/s00439-002-0890-4
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- Publication type:
- Article