Found: 19
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Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 34, doi. 10.1007/s00439-002-0851-y
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- Publication type:
- Article
Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.
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- Human Genetics, 2003, v. 112, n. 1, p. 42, doi. 10.1007/s00439-002-0832-1
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- Article
Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.
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- Human Genetics, 2003, v. 112, n. 1, p. 1, doi. 10.1007/s00439-002-0839-7
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- Article
January 2003.
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- Human Genetics, 2003, v. 112, n. 1, p. 104
- Publication type:
- Article
January 2003.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 103
- Publication type:
- Article
Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects.
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- Human Genetics, 2003, v. 112, n. 1, p. 62, doi. 10.1007/s00439-002-0834-z
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- Publication type:
- Article
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.
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- Human Genetics, 2003, v. 112, n. 1, p. 12, doi. 10.1007/s00439-002-0840-1
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- Article
Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.
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- Human Genetics, 2003, v. 112, n. 1, p. 91, doi. 10.1007/s00439-002-0855-7
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- Publication type:
- 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.
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- Human Genetics, 2003, v. 112, n. 1, p. 71, doi. 10.1007/s00439-002-0837-9
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- Publication type:
- Article
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
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- Human Genetics, 2003, v. 112, n. 1, p. 84, doi. 10.1007/s00439-002-0845-9
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- Article
Mitochondrial DNA polymorphisms associated with longevity in a Finnish population.
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- Human Genetics, 2003, v. 112, n. 1, p. 29, doi. 10.1007/s00439-002-0843-y
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- Article
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29.
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- Human Genetics, 2003, v. 112, n. 1, p. 24, doi. 10.1007/s00439-002-0836-x
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- Publication type:
- Article
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
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- Human Genetics, 2003, v. 112, n. 1, p. 78, doi. 10.1007/s00439-002-0844-x
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- Publication type:
- Article
Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11.
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- Human Genetics, 2003, v. 112, n. 1, p. 57, doi. 10.1007/s00439-002-0827-y
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- Article
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
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- Human Genetics, 2003, v. 112, n. 1, p. 98, doi. 10.1007/s00439-002-0841-0
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- Article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
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- 2003
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- Publication type:
- Erratum
Ian N.M. Day (ed) Molecular genetic epidemiology: a laboratory perspective: Springer, Berlin Heidelberg New York, 2002.
- Published in:
- 2003
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- Publication type:
- Book Review
Surfactant protein B polymorphism and respiratory distress syndrome in premature twins.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 18, doi. 10.1007/s00439-002-0835-y
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- Publication type:
- Article
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
- Published in:
- Human Genetics, 2003, v. 112, n. 1, p. 50, doi. 10.1007/s00439-002-0838-8
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- Publication type:
- Article