{"product_id":"clinical-genetics-and-genomics-at-a-glance-isbn-9781119240952","title":"Clinical Genetics and Genomics at a Glance","description":"\u003cp\u003e\u003cb\u003eClinical Genetics and Genomics at a Glance\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eThe market-leading at a \u003ci\u003eGlance\u003c\/i\u003e series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations.\u003c\/p\u003e \u003cp\u003eEach bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text.\u003c\/p\u003e \u003cp\u003eCovering a wide range of topics, books in the \u003ci\u003eat a Glance\u003c\/i\u003e series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eEverything you need to know about Clinical Genetics and Genomics … at a Glance!\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eComprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003ci\u003eClinical Genetics and Genomics at a Glance\u003c\/i\u003e combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions.\u003c\/p\u003e \u003cp\u003eUsing the popular “\u003ci\u003eat a Glance\u003c\/i\u003e” format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond.\u003c\/p\u003e \u003cp\u003e\u003ci\u003eClinical Genetics and Genomics\u003c\/i\u003e at a Glance uses a systemic approach following all the systems in the body:\u003c\/p\u003e \u003cul\u003e \u003cli\u003eGeneral topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling\u003c\/li\u003e \u003cli\u003eChapters on key conditions with a genetic basis, organised by body systems, for example:\u003c\/li\u003e \u003cul\u003e \u003cli\u003eCardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death\u003c\/li\u003e \u003cli\u003eDermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa\u003c\/li\u003e \u003cli\u003eEndocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus\u003c\/li\u003e \u003c\/ul\u003e \u003c\/ul\u003e \u003cp\u003e\u003ci\u003eClinical Genetics and Genomics at a Glance\u003c\/i\u003e is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.\u003c\/p\u003e \u003cp\u003eContributors\u003c\/p\u003e \u003cp\u003eForeword\u003c\/p\u003e \u003cp\u003e               Preface\u003c\/p\u003e \u003cp\u003ePart 1    Introduction\u003c\/p\u003e \u003cp\u003e1             What is Clinical Genetics and Genomic medicine?\u003c\/p\u003e \u003cp\u003e2             Inheritance\u003c\/p\u003e \u003cp\u003e3             Cytogenetic \u0026amp; Molecular genetic techniques\u003c\/p\u003e \u003cp\u003e4             How to read a genetic test report\u003c\/p\u003e \u003cp\u003e5             Genetic Counselling\u003c\/p\u003e \u003cp\u003ePart 2    Cardiology\u003c\/p\u003e \u003cp\u003e6             Structure and Congenital Heart Disease\u003c\/p\u003e \u003cp\u003e7             Ischamic Heart Disease\u003c\/p\u003e \u003cp\u003e8             Cardiomyopthies\u003c\/p\u003e \u003cp\u003e9             Arrhythmias and Sudden Cardiac Death\u003c\/p\u003e \u003cp\u003ePart 3    Dermatology\u003c\/p\u003e \u003cp\u003e10           Tuberous Sclerosis\u003c\/p\u003e \u003cp\u003e11           Gorlin syndrome\u003c\/p\u003e \u003cp\u003e12           Dariers Disease\u003c\/p\u003e \u003cp\u003e13           Lamellar Icthyosis\u003c\/p\u003e \u003cp\u003e14           Mal De Meleda\u003c\/p\u003e \u003cp\u003e15           Cutaneous Porphyria\u003c\/p\u003e \u003cp\u003e16           Epidermolysis Bullosa\u003c\/p\u003e \u003cp\u003e17           Cowden syndrome and Cowden-like syndrome\u003c\/p\u003e \u003cp\u003e18           Muir-Torre Syndrome\u003c\/p\u003e \u003cp\u003e18           X-linked Icthyosis\u003c\/p\u003e \u003cp\u003e20           Birt-Hogg-Dube\u003c\/p\u003e \u003cp\u003ePart 4    Endocrinology\u003c\/p\u003e \u003cp\u003e21           Disorders of sexual development and differentiation\u003c\/p\u003e \u003cp\u003e22           Congenital adrenal hyperplasia\u003c\/p\u003e \u003cp\u003e23           Androgen Insensitivity Syndrome\u003c\/p\u003e \u003cp\u003e24           Klinefelters syndrome\u003c\/p\u003e \u003cp\u003e25           Turners Syndrome\u003c\/p\u003e \u003cp\u003e26           Diabetes Mellitus\u003c\/p\u003e \u003cp\u003e27           Diabetes Insipidus\u003c\/p\u003e \u003cp\u003e28           Fabry-Anderson\u003c\/p\u003e \u003cp\u003ePart 5    Metabolic\u003c\/p\u003e \u003cp\u003e29           Introduction to the genetics of metabolic disorders\u003c\/p\u003e \u003cp\u003e30           Overview of disorders of amino acid metabolism\u003c\/p\u003e \u003cp\u003e31           Overview of disorders of carbohydrate metabolism\u003c\/p\u003e \u003cp\u003e32           Overview of disorders of lipid metabolism\u003c\/p\u003e \u003cp\u003e33           Overview of peroxisomal disorders\u003c\/p\u003e \u003cp\u003e34           Disorders of purine and pyrimidine metabolism\u003c\/p\u003e \u003cp\u003ePart 6    Gastroenterology\u003c\/p\u003e \u003cp\u003e35           IBD\u003c\/p\u003e \u003cp\u003e36           Wilsons\u003c\/p\u003e \u003cp\u003e37           Heamochromatosis\u003c\/p\u003e \u003cp\u003e38           Coeliac Disease\u003c\/p\u003e \u003cp\u003e39           Pancreatic cancer\u003c\/p\u003e \u003cp\u003ePart 7    Haematology\u003c\/p\u003e \u003cp\u003e40           Malignant Haematology\u003c\/p\u003e \u003cp\u003e41           Non malignanat Haematology\u003c\/p\u003e \u003cp\u003ePart 8    Immunology\u003c\/p\u003e \u003cp\u003e42           Severe combined immunodeficiency\u003c\/p\u003e \u003cp\u003e43           DNA repair defects\u003c\/p\u003e \u003cp\u003e44           Congenital abnormalities affecting the development of the thymus\u003c\/p\u003e \u003cp\u003e45           Common variable immunodeficiency\u003c\/p\u003e \u003cp\u003e46           X-linked (and autosomal recessive) agammaglobulinaemia\u003c\/p\u003e \u003cp\u003e47           Wiskott-Aldrich syndrome\u003c\/p\u003e \u003cp\u003e48           Hyperimmunoglobulin M syndromes\u003c\/p\u003e \u003cp\u003e49           Hyperimmunoglobulin E syndrome\u003c\/p\u003e \u003cp\u003e50           Chronic mucocutaneous candidiasis\u003c\/p\u003e \u003cp\u003e51           Genetic disorders associated with immune dysregulation and\/or autoimmunity\u003c\/p\u003e \u003cp\u003e52           Genetic disorders associated with familial haemophagocytic lymphohistiocytosis\u003c\/p\u003e \u003cp\u003e53           Mendelian susceptibility to mycobacterial disease\u003c\/p\u003e \u003cp\u003e54           Chronic granulomatous disease\u003c\/p\u003e \u003cp\u003e55           Defects in leukocyte migration\u003c\/p\u003e \u003cp\u003e56           Defects of Toll like receptors and their signalling pathways\u003c\/p\u003e \u003cp\u003e57           Complement deficiencies\u003c\/p\u003e \u003cp\u003e58           Autoinflammatory diseases and periodic fever syndromes\u003c\/p\u003e \u003cp\u003ePart 9    Neurology\u003c\/p\u003e \u003cp\u003e59           SMA\u003c\/p\u003e \u003cp\u003e60           MND\/ALS\u003c\/p\u003e \u003cp\u003e61           Fragile X\u003c\/p\u003e \u003cp\u003e62           HD\u003c\/p\u003e \u003cp\u003e63           Dementia\u003c\/p\u003e \u003cp\u003e64           Parkinsons\u003c\/p\u003e \u003cp\u003e65           Myotonic dystrophy\u003c\/p\u003e \u003cp\u003ePart 10  Paediatrics and Obstetrics\u003c\/p\u003e \u003cp\u003e66           Fetal anomaly screening\u003c\/p\u003e \u003cp\u003e67           Prenatal diagnostic testing and Preimplantation Genetic Diagnosis\u003c\/p\u003e \u003cp\u003e68           Edwards ' Syndrome\u003c\/p\u003e \u003cp\u003e69           Patau syndrome\u003c\/p\u003e \u003cp\u003e70           Williams syndrome\u003c\/p\u003e \u003cp\u003e71           Di George syndrome\u003c\/p\u003e \u003cp\u003ePart 11  Oncology\u003c\/p\u003e \u003cp\u003e72           Introduction to Cancer\u003c\/p\u003e \u003cp\u003e73           Neurofibromatosis\u003c\/p\u003e \u003cp\u003e74           Urological Cancers\u003c\/p\u003e \u003cp\u003e75           Peutz-Jegher Syndrome\u003c\/p\u003e \u003cp\u003e76           Von Hippel-Lindau\u003c\/p\u003e \u003cp\u003e77           Inherited Bowel (Lower GI) Cancers\u003c\/p\u003e \u003cp\u003e78           Inherited upper GI cancers\u003c\/p\u003e \u003cp\u003e79           Inherited Breast Cancer\u003c\/p\u003e \u003cp\u003e80           Retinoblastoma\u003c\/p\u003e \u003cp\u003e81           Multiple Endocrine Neoplasia\u003c\/p\u003e \u003cp\u003ePart 12  Opthalmology\u003c\/p\u003e \u003cp\u003e82           Congential and Childhood Cataracts\u003c\/p\u003e \u003cp\u003e83           Colour blindness and Achromatopsia\u003c\/p\u003e \u003cp\u003e84           Retinitis Pigmentosa\u003c\/p\u003e \u003cp\u003e85           Primary Congential Glaucoma\u003c\/p\u003e \u003cp\u003e86           Bardet-Biedl Syndrome\u003c\/p\u003e \u003cp\u003ePart 13  Renal\u003c\/p\u003e \u003cp\u003e87           PCKD\u003c\/p\u003e \u003cp\u003e88           Nephronophthisis\u003c\/p\u003e \u003cp\u003e89           Medullary cystic kidney disease\u003c\/p\u003e \u003cp\u003e90           Tuberous sclerosis\u003c\/p\u003e \u003cp\u003e91           von Hippel-Lindau\u003c\/p\u003e \u003cp\u003e92           Alport syndrome\u003c\/p\u003e \u003cp\u003e93           Cystinosis\u003c\/p\u003e \u003cp\u003e94           Cystinuria\u003c\/p\u003e \u003cp\u003ePart 14  MSK\u003c\/p\u003e \u003cp\u003e95           Marfans\u003c\/p\u003e \u003cp\u003e96           EDS\u003c\/p\u003e \u003cp\u003e97           Congenital Limb Deficiencies\u003c\/p\u003e \u003cp\u003e98           DMD\u003c\/p\u003e \u003cp\u003e99           Charcot–Marie–Tooth (CMT)\u003c\/p\u003e \u003cp\u003e100        Ankylosing Spondylitis\u003c\/p\u003e \u003cp\u003e101        Skeletal dysplasias\u003c\/p\u003e \u003cp\u003eGlossary\u003c\/p\u003e \u003cp\u003eIndex\u003c\/p\u003e \u003cp\u003e\u003cb\u003eDr Neeta Lakhani,\u003c\/b\u003e Specialty Registrar in Clinical Genetics, with a Paediatric background. University Hospitals of Leicester NHS Trust, Leicester, UK.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eMr Kunal Kulkarni,\u003c\/b\u003e Consultant Trauma and Orthopaedic Surgeon (Hand \u0026amp; Wrist specialist). University Hospitals of Leicester NHS Trust, Leicester, UK.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eProfessor Julian Barwell,\u003c\/b\u003e Consultant in Clinical Genetics and Honorary Professor in Genomic Medicine. University Hospitals of Leicester NHS Trust, Leicester, UK.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eProfessor Pradeep Vasudevan,\u003c\/b\u003e Consultant in Clinical Genetics and Honorary Professor. University Hospitals of Leicester NHS Trust, Leicester, UK.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eDr Huw Dorkins,\u003c\/b\u003e Fellow and Senior Tutor in Medicine at St Peter's College, University of Oxford, Oxford, UK. Editor-in-Chief, \u003ci\u003eJournal of Medical Genetics\u003c\/i\u003e.\u003c\/p\u003e  \u003cp\u003eThe market-leading at a \u003ci\u003eGlance\u003c\/i\u003e series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations.  \u003c\/p\u003e\u003cp\u003eEach bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text. \u003c\/p\u003e\u003cp\u003eCovering a wide range of topics, books in the \u003ci\u003eat a Glance\u003c\/i\u003e series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond. \u003c\/p\u003e\u003cp\u003e\u003cb\u003eEverything you need to know about Clinical Genetics and Genomics … at a Glance!\u003c\/b\u003e \u003c\/p\u003e\u003cp\u003e\u003cb\u003eComprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach\u003c\/b\u003e \u003c\/p\u003e\u003cp\u003e\u003ci\u003eClinical Genetics and Genomics at a Glance\u003c\/i\u003e combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions. \u003c\/p\u003e\u003cp\u003eUsing the popular “\u003ci\u003eat a Glance\u003c\/i\u003e” format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond. \u003c\/p\u003e\u003cp\u003e\u003ci\u003eClinical Genetics and Genomics\u003c\/i\u003e at a Glance uses a systemic approach following all the systems in the body:  \u003c\/p\u003e\u003cul\u003e\n\u003cli\u003eGeneral topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling\u003c\/li\u003e \u003cli\u003eChapters on key conditions with a genetic basis, organised by body systems, for example:\u003c\/li\u003e \u003cul\u003e\n\u003cli\u003eCardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death\u003c\/li\u003e \u003cli\u003eDermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa\u003c\/li\u003e \u003cli\u003eEndocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003c\/ul\u003e \u003cp\u003e\u003ci\u003eClinical Genetics and Genomics at a Glance\u003c\/i\u003e is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.\u003c\/p\u003e","brand":"Wiley-Blackwell","offers":[{"title":"Default Title","offer_id":47988932640997,"sku":"NP9781119240952","price":35.0,"currency_code":"USD","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1842\/7735\/files\/9781119240952.jpg?v=1761782106","url":"https:\/\/k12savings.com\/products\/clinical-genetics-and-genomics-at-a-glance-isbn-9781119240952","provider":"K12savings","version":"1.0","type":"link"}