Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 17
Results: 15
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2221, doi. 10.1093/hmg/ddg233
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- Article
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2179, doi. 10.1093/hmg/ddg232
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- Article
Recombination across the centromere of disjoined and non-disjoined chromosome 21.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2229, doi. 10.1093/hmg/ddg220
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- Article
Genetic unmasking of epigenetically silenced tumor suppressor genes in colon cancer cells deficient in DNA methyltransferases.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2209, doi. 10.1093/hmg/ddg226
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- Article
Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2133, doi. 10.1093/hmg/ddg227
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- Article
Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to disease.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2191, doi. 10.1093/hmg/ddg221
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- Article
A mouse model for cystinuria type I.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2109, doi. 10.1093/hmg/ddg189
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- Article
High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypes.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2087, doi. 10.1093/hmg/ddg224
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- Article
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2241, doi. 10.1093/hmg/ddg225
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- Article
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2201, doi. 10.1093/hmg/ddg223
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- Article
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2121, doi. 10.1093/hmg/ddg222
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- Article
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2097, doi. 10.1093/hmg/ddg228
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- Article
Chromatin of the Barr body: histone and non-histone proteins associated with or excluded from the inactive X chromosome.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2167, doi. 10.1093/hmg/ddg229
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- Publication type:
- Article
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2145
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- Publication type:
- Article
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2153, doi. 10.1093/hmg/ddg231
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- Article