Handbook of Chromosomal Syndromes, G. Shashidhar Pai

Автор: Thomas Liehr
Название: Benign & Pathological Chromosomal Imbalances,
ISBN: 0124046312 ISBN-13(EAN): 9780124046313
Издательство: Elsevier Science
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Описание: Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. . As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy.

Автор: Ellis
Название: Inherited Cancer Syndromes
ISBN: 1441968202 ISBN-13(EAN): 9781441968203
Издательство: Springer
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Описание: The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.

Автор: Hennekam, Raoul; Allanson, Judith; Krantz, Ian
Название: Gorlin`s Syndromes of the Head and Neck
ISBN: 0195307909 ISBN-13(EAN): 9780195307900
Издательство: Oxford Academ
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Описание: This book argues that Western ideas of freedom have become widely accepted in Asia, as the key determinant for measuring a range of legal, ethical and political practices. The book finds that modern conceptions of freedom become adapted to local contexts throughout Asia. It avoids cultural relativism and generalisations, but does find a number of common ideas relating to freedom across the region.

Автор: Jarrah Ali Al-Tubaikh; Maximilian F. Reiser
Название: Congenital Diseases and Syndromes
ISBN: 3642001599 ISBN-13(EAN): 9783642001598
Издательство: Springer
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Цена: 32004.00 р.
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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: Bissonetti
Название: Syndromes
ISBN: 0071354557 ISBN-13(EAN): 9780071354554
Издательство: McGraw-Hill
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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: Walker
Название: Neuroacanthocytosis Syndromes II
ISBN: 3642090826 ISBN-13(EAN): 9783642090820
Издательство: Springer
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Цена: 32004.00 р.
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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: Cassidy
Название: Management of Genetic Syndromes. 3 ed. 2010
ISBN: 0470191414 ISBN-13(EAN): 9780470191415
Издательство: Wiley
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Цена: 32147.00 р.
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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