Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 18
Results: 15
Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2333, doi. 10.1093/hmg/ddg244
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- Article
Growth retardation and skin abnormalities of the Recql4-deficient mouse.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2293, doi. 10.1093/hmg/ddg254
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- Article
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2359, doi. 10.1093/hmg/ddg253
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A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2321, doi. 10.1093/hmg/ddg243
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- Article
DNA damage induced by polyglutamine-expanded proteins.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2301, doi. 10.1093/hmg/ddg242
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- Article
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2269, doi. 10.1093/hmg/ddg241
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- Article
The HLA class III subregion is responsible for an increased breast cancer risk.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2311, doi. 10.1093/hmg/ddg245
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- Article
Functional analysis of human promoter polymorphisms.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2249, doi. 10.1093/hmg/ddg246
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- Article
Murine Denys–Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2379, doi. 10.1093/hmg/ddg240
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- Article
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2277, doi. 10.1093/hmg/ddg239
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- Article
Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2341, doi. 10.1093/hmg/ddg238
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- Article
Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2349, doi. 10.1093/hmg/ddg237
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- Article
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2255, doi. 10.1093/hmg/ddg236
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- Article
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2369, doi. 10.1093/hmg/ddg235
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- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2395, doi. 10.1093/hmg/ddg234
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- Article