Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 1
Results: 22
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 71, doi. 10.1093/hmg/ddg004
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Vascular morphogenesis: tales of two syndromes.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r97
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Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 13, doi. 10.1093/hmg/ddg001
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Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 61, doi. 10.1093/hmg/ddg003
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Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r45
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Association between Parkinson’s disease and polymorphisms in the nNOS and iNOS genes in a community-based case–control study.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 79, doi. 10.1093/hmg/ddg009
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Lissencephaly and the molecular basis of neuronal migration.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r89
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Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 33, doi. 10.1093/hmg/ddg008
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Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 1, doi. 10.1093/hmg/ddg002
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The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 51, doi. 10.1093/hmg/ddg005
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Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 41, doi. 10.1093/hmg/ddg006
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Pathogenesis of split-hand/split-foot malformation.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r51, doi. 10.1093/hmg/ddg090
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Results of a high-resolution genome screen of 437 Alzheimer’s Disease families.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 23, doi. 10.1093/hmg/ddg007
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Normal and abnormal dental development.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r69
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Roles of BRCA1 in DNA damage repair: a link between development and cancer.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r113
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T-box genes in human disorders.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r37
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Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r75
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Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r61
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To beat or not to beat: roles of cilia in development and disease.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r27
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How a Hedgehog might see holoprosencephaly.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r15
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DNA microarrays and development.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r1
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Notch signaling and inherited disease syndromes.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. r9
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