Showing 21 - 40 results of 278 for search '"genetic analysis"', query time: 0.07s Refine Results
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    Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans. by Tammie Bishop, Kah Weng Lau, Andrew C R Epstein, Stuart K Kim, Min Jiang, Delia O'Rourke, Christopher W Pugh, Jonathan M Gleadle, Martin S Taylor, Jonathan Hodgkin, Peter J Ratcliffe

    Published 2004-10-01
    “…Here, we report on a genetic analysis of HIF-dependent and -independent effects of VHL inactivation by studying gene expression patterns in Caenorhabditis elegans. …”
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    Genetics : analysis of genes and genomes / by Hartl, Daniel L., Cochrane, Bruce

    Published 2019
    Table of Contents: “…Genes, genomes and genetic analysis -- DNA structure and genetic variation -- Transmission genetics : the principle of segregation -- The chromosomal basis of inheritance -- Genetic linkage and chromosome mapping -- Human karyotypes and chromosome behavior -- The genetics of complex characters -- Genetics of the bacteria and their viruses -- Molecular organization of chromosomes and genomes -- DNA replication and sequencing -- Mutation, repair, and recombination -- Molecular biology of gene expression -- Molecular mechanisms of gene regulation -- Manipulating genes and genomes -- Genetic control of development -- The genetics of cancer -- Extranuclear inheritance -- Genetics of populations -- Human evolution.…”
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    Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant by Zhen Li, Zhen Li, Changming Han, Hongwei Zhao

    Published 2025-01-01
    “…After receiving treatment with levetiracetam (50 mg·kg·d−1), the child has been free of seizures for the last 8 months. Genetic analysis indicated a heterozygous missense variant of c.263T > C (p.L88P) in the SLC6A1 gene in the child, recognized as a spontaneous mutation that has not been previously documented in the literature.ConclusionThe variant in the SLC6A1 gene is implicated as one of the etiological factors contributing to EMAS coupled with neurodevelopmental abnormalities. …”
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    Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy by Yolanda Fernández-Perea, Lutgardo García-Díaz, Javier Sánchez, Guillermo Antiñolo, Salud Borrego

    Published 2017-01-01
    “…We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. …”
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