Genetics of Endocrine Diseases and Syndromes, Igaz Peter, Patуcs Attila

Автор: G. Shashidhar Pai
Название: Handbook of Chromosomal Syndromes
ISBN: 047137217X ISBN-13(EAN): 9780471372172
Издательство: Wiley
Рейтинг:
Цена: 178410.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This comprehensive reference provides a pictorial and descriptive account of approximately 200 chromosomal aneuploidy syndromes. It focuses exclusively on clinical syndromes due to chromosomal abnormalities.

Автор: Peter Igaz; Attila Pat?cs
Название: Genetics of Endocrine Diseases and Syndromes
ISBN: 3030259048 ISBN-13(EAN): 9783030259044
Издательство: Springer
Рейтинг:
Цена: 158380.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Автор: Bissonetti
Название: Syndromes
ISBN: 0071354557 ISBN-13(EAN): 9780071354554
Издательство: McGraw-Hill
Рейтинг:
Цена: 109810.00 T
Наличие на складе: Поставка под заказ.
Описание: A resource for various major genetic syndromes and important anesthetic, diagnostic, and pharmacological considerations. It provides convenient A-Z coverage of more than 2,000 genetic, metabolic, and dysmorphic conditions. Its cross-referencing of synonyms, variations, and international names leads to over 4,500 entries in all.

Автор: Reena Das, Prashant Sharma
Название: Molecular Genetics of Thalassemia Syndromes
ISBN: 1615047247 ISBN-13(EAN): 9781615047246
Издательство: Mare Nostrum (Eurospan)
Рейтинг:
Цена: 25080.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally. Thalassemias are found in high frequencies in tropical regions corresponding to the malaria belt.

Автор: Beales
Название: Genetics of Obesity Syndromes
ISBN: 0195300165 ISBN-13(EAN): 9780195300161
Издательство: Oxford Academ
Рейтинг:
Цена: 103490.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients.
The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

Автор: Jarrah Ali Al-Tubaikh; Maximilian F. Reiser
Название: Congenital Diseases and Syndromes
ISBN: 3642001599 ISBN-13(EAN): 9783642001598
Издательство: Springer
Рейтинг:
Цена: 213360.00 T
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.

Автор: Ellis
Название: Inherited Cancer Syndromes
ISBN: 1441968202 ISBN-13(EAN): 9781441968203
Издательство: Springer
Рейтинг:
Цена: 125770.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.

Автор: Charles Antzelevitch; Gan-Xin Yan
Название: J Wave Syndromes
ISBN: 3319810685 ISBN-13(EAN): 9783319810683
Издательство: Springer
Рейтинг:
Цена: 149060.00 T
Наличие на складе: Невозможна поставка.
Описание: Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes.

Автор: Cassidy
Название: Management of Genetic Syndromes. 3 ed. 2010
ISBN: 0470191414 ISBN-13(EAN): 9780470191415
Издательство: Wiley
Рейтинг:
Цена: 214310.00 T
Наличие на складе: Поставка под заказ.
Описание: The bestselling guide to the medical management of common genetic syndromes ?€”now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled colle

Автор: Adrian Danek
Название: Neuroacanthocytosis Syndromes
ISBN: 9048167434 ISBN-13(EAN): 9789048167432
Издательство: Springer
Рейтинг:
Цена: 177010.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular.

Автор: Walker
Название: Neuroacanthocytosis Syndromes II
ISBN: 3642090826 ISBN-13(EAN): 9783642090820
Издательство: Springer
Рейтинг:
Цена: 213360.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: The latest research regarding the neurodegenerative conditions known as neuroacanthocytosis will be found in this book. In vitro studies have identified potential protein interactions, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes.

Автор: Judit V?rkonyi
Название: The Myelodysplastic Syndromes
ISBN: 940178390X ISBN-13(EAN): 9789401783903
Издательство: Springer
Рейтинг:
Цена: 191550.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Myelodysplastic syndromes (MDS) are the most common hematological malignancies involving mostly the elderly population. This volume provides and updated overview of important clinical aspects of the disease.