Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 16
Results: 15
Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2063, doi. 10.1093/hmg/ddg219
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- Article
Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2021, doi. 10.1093/hmg/ddg218
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- Article
Global disruption of the cerebellar transcriptome in a Down syndrome mouse model.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2013, doi. 10.1093/hmg/ddg217
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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1995, doi. 10.1093/hmg/ddg213
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- Article
TBX1 is required for inner ear morphogenesis.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2041, doi. 10.1093/hmg/ddg216
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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2031, doi. 10.1093/hmg/ddg215
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Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2003, doi. 10.1093/hmg/ddg214
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A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
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Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1945, doi. 10.1093/hmg/ddg211
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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2049, doi. 10.1093/hmg/ddg210
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Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1981, doi. 10.1093/hmg/ddg209
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Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1973, doi. 10.1093/hmg/ddg208
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Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2085, doi. 10.1093/hmg/ddg207
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- Article
A genome wide scan for early onset primary hypertension in Scandinavians.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2077, doi. 10.1093/hmg/ddg206
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- Article
Association of Eotaxin gene family with asthma and serum total IgE.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2083, doi. 10.1093/hmg/ddg205
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- Article