Автор: Richard P. Lifton Название: Genetic Diseases of the Kidney, ISBN: 0124498515 ISBN-13(EAN): 9780124498518 Издательство: Elsevier Science Рейтинг: Цена: 13025 р. 16281.00-20% Наличие на складе: Есть (1 шт.) Описание: Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to disease. This book offers an insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease.
Автор: Fernandes Название: Inborn Metabolic Diseases ISBN: 3540287833 ISBN-13(EAN): 9783540287834 Издательство: Springer Рейтинг: Цена: 18561 р. Наличие на складе: Нет в наличии.
Описание: Emphasises clinical presentation and treatment in acute and chronic situation. This book contains a chapter on Neonatal screening by tandem MS/MS and includes several groups of disorders. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables.
Описание: Application of genomic, proteomic, and bioinformatics technologies to study of human genetics has made it possible for human genetic diseases to be studied on an unprecedented scale. This work provides coverage of a range of research topics in this area. It reviews a spectrum of approaches to human genetics research.
Название: Primary immunodeficiency diseases ISBN: 354078537X ISBN-13(EAN): 9783540785378 Издательство: Springer Рейтинг: Цена: 13775 р. Наличие на складе: Невозможна поставка.
Описание: Primary immunodeficiency diseases (PID) are a group of disorders involving defects in one or more components of the immune system, and are characterized by an increased incidence of infections, autoimmunity, and malignancies. This book contains advances in the field.
Автор: Jarrah Ali Al-Tubaikh; Maximilian F. Reiser Название: Congenital Diseases and Syndromes ISBN: 3642001599 ISBN-13(EAN): 9783642001598 Издательство: Springer Рейтинг: Цена: 27432 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This book is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common
congenital diseases and syndromes. Chapters are organised according to body system, and focus on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and
the musculoskeletal system. In this book, a final chapter is devoted to phacomatoses.
Each syndrome or disease is illustrated by multiple images as well as by high-quality
digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point
of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted.
This book will be immensely useful for junior
radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes.
Описание: This reference work should prove relevant, not only to to the student seeking a basic understanding of a particular disease, but also to the physician and the genetic counsellor, through its its discussion of treatments and genetic risk information for families.
Автор: Traboulsi Elias I Название: Genetic Diseases of the Eye ISBN: 0195326148 ISBN-13(EAN): 9780195326147 Издательство: Oxford Academ Рейтинг: Цена: 35310 р. Наличие на складе: Нет в наличии.
Описание: This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters and provide an essential Atlas aspect to this publication. This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists. New to this edition: - Several chapters have been dedicated to individual disorders, especially the retinal dystrophies, whose molecular genetic basis has been elucidated in the last decade or so. - A large chapter on genetic counseling has been added to the book that is case and family-based and provides a practical approach to counseling patients and families with inherited eye diseases. - A new chapter on the genetics of age-related macular degeneration and on proteomics as applies to age-related macular degeneration adds a new dimension to this book. - A new chapter on teratogens and ocular malformations by Kirstin Stromland, one of the world leaders in this field. - A new section on cancer genetics and the eye - New chapters on ocular imaging and gene therapy for inherited eye diseases. Features This book is a market leader in the field. Competition is out- of-date Written by leading experts Extrem
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