Produktbild: Clinical Genetics and Genomics at a Glance

Clinical Genetics and Genomics at a Glance

Aus der Reihe At a Glance

38,99 €

inkl. gesetzl. MwSt., Versandkostenfrei


Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

28.09.2023

Herausgeber

Neeta Lakhani + weitere

Verlag

John Wiley & Sons Inc

Seitenzahl

272

Maße (L/B/H)

21,6/27,6/1,9 cm

Gewicht

748 g

Auflage

1. Auflage

Sprache

Englisch

ISBN

978-1-119-24095-2

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

28.09.2023

Herausgeber

Verlag

John Wiley & Sons Inc

Seitenzahl

272

Maße (L/B/H)

21,6/27,6/1,9 cm

Gewicht

748 g

Auflage

1. Auflage

Sprache

Englisch

ISBN

978-1-119-24095-2

Herstelleradresse

Libri GmbH
Europaallee 1
36244 Bad Hersfeld
DE

Email: gpsr@libri.de

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  • Produktbild: Clinical Genetics and Genomics at a Glance
  • Contributors

    Foreword

                   Preface

    Part 1    Introduction

    1             What is Clinical Genetics and Genomic medicine?

    2             Inheritance

    3             Cytogenetic & Molecular genetic techniques

    4             How to read a genetic test report

    5             Genetic Counselling

    Part 2    Cardiology

    6             Structure and Congenital Heart Disease

    7             Ischamic Heart Disease

    8             Cardiomyopthies

    9             Arrhythmias and Sudden Cardiac Death

    Part 3    Dermatology

    10           Tuberous Sclerosis

    11           Gorlin syndrome

    12           Dariers Disease

    13           Lamellar Icthyosis

    14           Mal De Meleda

    15           Cutaneous Porphyria

    16           Epidermolysis Bullosa

    17           Cowden syndrome and Cowden-like syndrome

    18           Muir-Torre Syndrome

    18           X-linked Icthyosis

    20           Birt-Hogg-Dube

    Part 4    Endocrinology

    21           Disorders of sexual development and differentiation

    22           Congenital adrenal hyperplasia

    23           Androgen Insensitivity Syndrome

    24           Klinefelters syndrome

    25           Turners Syndrome

    26           Diabetes Mellitus

    27           Diabetes Insipidus

    28           Fabry-Anderson

    Part 5    Metabolic

    29           Introduction to the genetics of metabolic disorders

    30           Overview of disorders of amino acid metabolism

    31           Overview of disorders of carbohydrate metabolism

    32           Overview of disorders of lipid metabolism

    33           Overview of peroxisomal disorders

    34           Disorders of purine and pyrimidine metabolism

    Part 6    Gastroenterology

    35           IBD

    36           Wilsons

    37           Heamochromatosis

    38           Coeliac Disease

    39           Pancreatic cancer

    Part 7    Haematology

    40           Malignant Haematology

    41           Non malignanat Haematology

    Part 8    Immunology

    42           Severe combined immunodeficiency

    43           DNA repair defects

    44           Congenital abnormalities affecting the development of the thymus

    45           Common variable immunodeficiency

    46           X-linked (and autosomal recessive) agammaglobulinaemia

    47           Wiskott-Aldrich syndrome

    48           Hyperimmunoglobulin M syndromes

    49           Hyperimmunoglobulin E syndrome

    50           Chronic mucocutaneous candidiasis

    51           Genetic disorders associated with immune dysregulation and/or autoimmunity

    52           Genetic disorders associated with familial haemophagocytic lymphohistiocytosis

    53           Mendelian susceptibility to mycobacterial disease

    54           Chronic granulomatous disease

    55           Defects in leukocyte migration

    56           Defects of Toll like receptors and their signalling pathways

    57           Complement deficiencies

    58           Autoinflammatory diseases and periodic fever syndromes

    Part 9    Neurology

    59           SMA

    60           MND/ALS

    61           Fragile X

    62           HD

    63           Dementia

    64           Parkinsons

    65           Myotonic dystrophy

    Part 10  Paediatrics and Obstetrics

    66           Fetal anomaly screening

    67           Prenatal diagnostic testing and Preimplantation Genetic Diagnosis

    68           Edwards ' Syndrome

    69           Patau syndrome

    70           Williams syndrome

    71           Di George syndrome

    Part 11  Oncology

    72           Introduction to Cancer

    73           Neurofibromatosis

    74           Urological Cancers

    75           Peutz-Jegher Syndrome

    76           Von Hippel-Lindau

    77           Inherited Bowel (Lower GI) Cancers

    78           Inherited upper GI cancers

    79           Inherited Breast Cancer

    80           Retinoblastoma

    81           Multiple Endocrine Neoplasia

    Part 12  Opthalmology

    82           Congential and Childhood Cataracts

    83           Colour blindness and Achromatopsia

    84           Retinitis Pigmentosa

    85           Primary Congential Glaucoma

    86           Bardet-Biedl Syndrome

    Part 13  Renal

    87           PCKD

    88           Nephronophthisis

    89           Medullary cystic kidney disease

    90           Tuberous sclerosis

    91           von Hippel-Lindau

    92           Alport syndrome

    93           Cystinosis

    94           Cystinuria

    Part 14  MSK

    95           Marfans

    96           EDS

    97           Congenital Limb Deficiencies

    98           DMD

    99           Charcot-Marie-Tooth (CMT)

    100        Ankylosing Spondylitis

    101        Skeletal dysplasias

    Glossary

    Index