Search Results - F/LOSS~

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    Single nucleotide polymorphism microarrays in the analysis of cancer

    Published 2020
    Table of Contents: “…Contents: Single nucleotide polymorphisms -- Single nucleotide polymorphism arrays -- Detecting loss of heterozygosity -- Measuring changes in copy-number -- Determining allele-specific copy-numbers -- Detecting germline cancer risk alleles.…”
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    Series
    Electronic Video
  5. 5

    Single nucleotide polymorphism microarrays in the analysis of cancer

    Published 2020
    Table of Contents: “…Contents: Single nucleotide polymorphisms -- Single nucleotide polymorphism arrays -- Detecting loss of heterozygosity -- Measuring changes in copy-number -- Determining allele-specific copy-numbers -- Detecting germline cancer risk alleles.…”
    Get full text
    Series
    Electronic Video
  6. 6

    Modulating gene expression to treat diseases

    Published 2021
    Subjects:
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    Electronic Video
  7. 7

    Modulating gene expression to treat diseases

    Published 2021
    Subjects:
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    Electronic Video
  8. 8

    Factor VIII and Haemophilia A

    Published 2016
    Table of Contents: “…-- Different types of factor VIII gene mutations -- Loss of protein or loss of function -- Structural interpretation of protein dysfunction -- Other rare causes of FVIII deficiency.…”
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    Series
    Electronic Video
  9. 9

    Factor VIII and Haemophilia A

    Published 2016
    Table of Contents: “…-- Different types of factor VIII gene mutations -- Loss of protein or loss of function -- Structural interpretation of protein dysfunction -- Other rare causes of FVIII deficiency.…”
    Get full text
    Series
    Electronic Video
  10. 10

    Factor VIII and Haemophilia A

    Published 2016
    Table of Contents: “…-- Different types of factor VIII gene mutations -- Loss of protein or loss of function -- Structural interpretation of protein dysfunction -- Other rare causes of FVIII deficiency.…”
    Get full text
    Series
    Electronic Video
  11. 11

    Single nucleotide polymorphism microarrays in the analysis of cancer

    Published 2009
    Table of Contents: “…Contents: Single nucleotide polymorphisms -- Single nucleotide polymorphism arrays -- Detecting loss of heterozygosity -- Measuring changes in copy-number -- Determining allele-specific copy-numbers -- Detecting germline cancer risk alleles.…”
    Get full text
    Series
    Electronic Video
  12. 12

    Microsatellite and trinucleotide repeat expansion diseases

    Published 2020
    Table of Contents: “…Contents: Mendelian neurodegenerative diseases are caused by repeat expansions -- The mutation can result in gain-of-function or loss-of-function -- Fragile X syndrome -- Myotonic dystrophy -- Huntington's disease -- Friedrich's ataxia -- C9orf72.…”
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    Series
    Electronic Video
  13. 13

    Microsatellite and trinucleotide repeat expansion diseases

    Published 2020
    Table of Contents: “…Contents: Mendelian neurodegenerative diseases are caused by repeat expansions -- The mutation can result in gain-of-function or loss-of-function -- Fragile X syndrome -- Myotonic dystrophy -- Huntington's disease -- Friedrich's ataxia -- C9orf72.…”
    Get full text
    Series
    Electronic Video
  14. 14

    Williams-Beuren syndrome locus a model of CNV affecting gene dosage and phenotypes /

    Published 2009
    Table of Contents: “…Contents: Clinical overview of WBS -- Genetic basis of WBS, including the role of elastin --Mechanisms of rearrangement at the WBS locus -- Occurrence and implications of inversions of the WBS region -- Duplication of the WBS region -- Comparison of gain and loss at the WBS locus -- Genotype-phenotype relationships in WBS.…”
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    Series
    Electronic Video
  15. 15

    Williams-Beuren syndrome locus a model of CNV affecting gene dosage and phenotypes /

    Published 2009
    Table of Contents: “…Contents: Clinical overview of WBS -- Genetic basis of WBS, including the role of elastin --Mechanisms of rearrangement at the WBS locus -- Occurrence and implications of inversions of the WBS region -- Duplication of the WBS region -- Comparison of gain and loss at the WBS locus -- Genotype-phenotype relationships in WBS.…”
    Get full text
    Series
    Electronic Video
  16. 16

    Williams-Beuren syndrome locus a model of CNV affecting gene dosage and phenotypes /

    Published 2009
    Table of Contents: “…Contents: Clinical overview of WBS -- Genetic basis of WBS, including the role of elastin --Mechanisms of rearrangement at the WBS locus -- Occurrence and implications of inversions of the WBS region -- Duplication of the WBS region -- Comparison of gain and loss at the WBS locus -- Genotype-phenotype relationships in WBS.…”
    Get full text
    Series
    Electronic Video
  17. 17

    Mutation and disease

    Published 2009
    Table of Contents: “…Contents: Types of mutation -- Point mutation -- Submicroscopic deletion or insertion -- Microscopically visible deletion, translocation or inversion -- Loss of a whole chromosome -- Dominance or recessivity -- Dominant negative mutations in collagen genes -- Retinoblastoma -- Williams Syndrome -- Fragile X -- Trinucleotide expansion mutations.…”
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    Series
    Electronic Video
  18. 18

    Mutation and disease

    Published 2009
    Table of Contents: “…Contents: Types of mutation -- Point mutation -- Submicroscopic deletion or insertion -- Microscopically visible deletion, translocation or inversion -- Loss of a whole chromosome -- Dominance or recessivity -- Dominant negative mutations in collagen genes -- Retinoblastoma -- Williams Syndrome -- Fragile X -- Trinucleotide expansion mutations.…”
    Get full text
    Series
    Electronic Video
  19. 19

    Mutation and disease

    Published 2009
    Table of Contents: “…Contents: Types of mutation -- Point mutation -- Submicroscopic deletion or insertion -- Microscopically visible deletion, translocation or inversion -- Loss of a whole chromosome -- Dominance or recessivity -- Dominant negative mutations in collagen genes -- Retinoblastoma -- Williams Syndrome -- Fragile X -- Trinucleotide expansion mutations.…”
    Get full text
    Series
    Electronic Video
  20. 20

    One plus one is better than two genome doubling in flowering plants /

    Published 2013
    Table of Contents: “…Contents: Polyploidy: traditional views and new paradigm -- Success of the tetraploids: size matters -- Ancient polyploidy and "hexaploidy" -- Autopolyploids vs. allopolyploids -- Origins of polyploid species -- Polyploids as evolutionarily dynamic -- Predictable and repeated evolution -- Defining homeologs and homeolog loss -- Tissue-specific expression of homeologs -- Aneuploidy and its compensation.…”
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    Series
    Electronic Video