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    Medical genetics at a glance / Dorian J. Pritchard, Bruce R. Korf.

    • Title:Medical genetics at a glance / Dorian J. Pritchard, Bruce R. Korf.
    •    
    • Author/Creator:Pritchard, D. J. (Dorian J.)
    • Other Contributors/Collections:Korf, Bruce R.
    • Published/Created:Malden, Mass. : Blackwell Pub., 2008.
    • Holdings

       
    • Library of Congress Subjects:Medical genetics.
      Developmental biology.
    • Medical Subjects: Genetic Diseases, Inborn.
      Chromosome Aberrations.
      Genetics.
    • Edition:2nd ed.
    • Description:167 p. : ill. (some col.) ; 28 cm.
    • Series:At a glance series (Oxford, England)
    • Notes:Includes index.
    • ISBN:9781405148467 (alk. paper)
    • Contents:Pt. 1. Cellular, molecular and developmental biology
      1. Introduction and basic biology
      2. cell
      3. chromosomes
      4. DNA structure
      5. DNA replication
      6. RNA structure
      7. Production of messenger RNA
      8. Protein synthesis
      9. cell cycle
      10. Gametogenesis
      11. Embryology
      12. Body patterning
      13. Sexual differentiation
      Pt. 2. Medical genetics
      14. place of genetics in medicine
      15. Mendel's laws
      16. Autosomal dominant inheritance, principles
      17. Autosomal dominant inheritance, clinical examples
      18. Autosomal recessive inheritance, principles
      19. Autosomal recessive inheritance, clinical examples
      20. Aspects of dominance
      21. Genomic imprinting and dynamic mutation
      22. X-linked inheritance
      23. Sex-related disorders other than X-linked
      24. Autosomal aneuploidies
      25. Sex chromosome aneuploidies
      26. Chromosome structural abnormalities
      27. Chromosome structural abnormalities, clinical examples
      28. Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation
      29. Congenital abnormalities arising at the fetal stage
      30. Principles of multifactorial disease
      31. Multifactorial disease in children
      32. common disorders of adult life
      33. Twin studies
      34. Normal polymorphism
      35. Allele frequency
      36. Genetic linkage
      37. Gene mapping
      38. Mutagenesis and DNA repair
      39. Mutations
      40. molecular biology of cancer
      41. Familial cancers
      42. Immunogenetics
      43. Genetic disorders of the immune system
      44. Biochemical genetics: part 1
      45. Biochemical genetics: part 2
      Pt. 3. Clinical applications of genetics
      46. Clinical applications of genetics: an overview
      47. Pedigree drawing
      48. Risk assessment
      49. Dysmorphology
      50. Chromosome analysis
      51. Biochemical diagnosis
      52. Reproductive genetic counselling
      53. Prenatal sampling
      54. Clinical application of linkage
      55. DNA sequencing
      56. Southern blotting
      57. polymerase chain reaction
      58. DNA profiling
      59. Management of genetic disease
      60. Avoidance and prevention of disease
      61. Ethical and social issues in clinical genetics
      Self-assessment case studies: questions
      Self-assessment case studies: answers.
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