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  • Clinical Ophthalmic Genetics and Genomics

    Clinical Ophthalmic Genetics and Genomics by Black, Graeme C.M.; Ashworth, Jane L.; Sergouniotis, Panagiotis I.;

      • GET 10% OFF

      • The discount is only available for 'Alert of Favourite Topics' newsletter recipients.
      • Publisher's listprice EUR 175.00
      • The price is estimated because at the time of ordering we do not know what conversion rates will apply to HUF / product currency when the book arrives. In case HUF is weaker, the price increases slightly, in case HUF is stronger, the price goes lower slightly.

        72 581 Ft (69 125 Ft + 5% VAT)
      • Discount 10% (cc. 7 258 Ft off)
      • Discounted price 65 323 Ft (62 213 Ft + 5% VAT)

    72 581 Ft

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    Availability

    Estimated delivery time: In stock at the publisher, but not at Prospero's office. Delivery time approx. 3-5 weeks.
    Not in stock at Prospero.

    Why don't you give exact delivery time?

    Delivery time is estimated on our previous experiences. We give estimations only, because we order from outside Hungary, and the delivery time mainly depends on how quickly the publisher supplies the book. Faster or slower deliveries both happen, but we do our best to supply as quickly as possible.

    Product details:

    • Publisher Elsevier Science
    • Date of Publication 20 January 2022

    • ISBN 9780128139448
    • Binding Paperback
    • No. of pages496 pages
    • Size 276x215 mm
    • Weight 1540 g
    • Language English
    • 189

    Categories

    Long description:

    Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders.

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    Table of Contents:

    Section I. Genomics and the eye
    1. Genetic disorders and genetic variants
    2. Genetic testing techniques
    3. Genetic variant interpretation
    4. Genetic counselling and family support
    5. Syndromic conditions and the eye
    6. Ophthalmic phenotyping. Electrophysiology
    7. Ophthalmic phenotyping. Imaging
    8. Gene therapy and treatment trials

    Section II. Genetic disorders affecting the anterior segment
    9. Genetic disorders affecting the cornea
    10. Anterior segment developmental disorders
    11. Cataract
    12. Ectopia lentis

    Section III. Genetic disorders affecting the posterior segment
    13. Genetic disorders affecting the retina, choroid and RPE
    14. Familial vitreoretinopathies
    15. Genetic disorders affecting the optic nerve

    Section IV. Genetic disorders affecting both the anterior and posterior segment
    16. Developmental eye disorders
    17. Aniridia
    18. Albinism

    Section V. Genetic disorders affecting ocular motility
    19. Infantile nystagmus
    20. Congenital cranial dysinnervation disorders
    21. Progressive external ophthalmoplegia

    Section VI. Tumour predisposition syndromes
    22. Phakomatoses
    23. Naevoid basal cell carcinoma syndrome
    24. Congenital hypertrophy of retinal pigment epithelium (CHRPE)
    25. Retinoblastoma

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