Cassidy and Allanson's Management of Genetic Syndromes

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Behavioural Phenotypes

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Publisher : Cambridge University Press
ISBN 13 : 9781898683063
Total Pages : 236 pages
Book Rating : 4.6/5 (83 download)

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Book Synopsis Behavioural Phenotypes by : Gregory O'Brien

Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: Increasing interest over recent years in the study of the influences of environment and genetic factors on behavioural disorder has come from a wide range of disciplines. These studies have subsequently been focused through the foundation of the Society for the Study of Behavioural Phenotypes, which forms the basis for assimilating new information and coordinating future research in this field. This volume from founder members of the society presents a distillation of thinking and reviews appropriate measurement schedules. Including research findings, explanation of concepts, genetic scientific techniques and methodological issues, this work will be welcomed by those with an interest in behavioural disorder at every level.

Health Care for People with Intellectual and Developmental Disabilities across the Lifespan

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Author :
Publisher : Springer
ISBN 13 : 9783319180953
Total Pages : 0 pages
Book Rating : 4.1/5 (89 download)

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Book Synopsis Health Care for People with Intellectual and Developmental Disabilities across the Lifespan by : I. Leslie Rubin

Download or read book Health Care for People with Intellectual and Developmental Disabilities across the Lifespan written by I. Leslie Rubin and published by Springer. This book was released on 2016-05-10 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a broad overview of quality health care for people with intellectual and developmental disabilities (IDD). It focuses on providing the reader a practical approach to dealing with the health and well-being of people with IDD in general terms as well as in dealing with specific conditions. In addition, it offers the reader a perspective from many different points of view in the health care delivery system as well as in different parts of the world. This is the 3rd , and much expanded edition, of a text that was first published in 1989 (Lea and Fibiger). The second edition was published in 2006 (Paul Brookes) and has been used as a formal required text in training programs for physicians, nurses and nurse practitioners as well as by administrators who are responsible for programs serving people with IDD. This book is considered the “Bible” in the field of health care for people with IDD since 1989 when the first edition came out.

Management of Genetic Syndromes

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

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Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Handbook of Pediatric Anesthesia

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Publisher : McGraw-Hill Education / Medical
ISBN 13 : 9780071769358
Total Pages : 400 pages
Book Rating : 4.7/5 (693 download)

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Book Synopsis Handbook of Pediatric Anesthesia by : Manon Hache

Download or read book Handbook of Pediatric Anesthesia written by Manon Hache and published by McGraw-Hill Education / Medical. This book was released on 2014-10-21 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sharpen your clinical decision-making skills with this concise handbook of anesthesia care for children Written by the pediatric anesthesia faculty at Columbia University Medical Center, Handbook of Pediatric Anesthesia is a succinct guide to the practice of clinical anesthesia in neonates, infants, children, and adolescents. Each of the 89 chapters is devoted to a specific illness or disorder and is presented in a consistent, easy-access design. Every chapter includes a case description, perioperative considerations, anesthetic management, postoperative considerations, controversies, and surgical concerns for the illness discussed. Covering the entire breadth of the specialty, Handbook of Pediatric Anesthesia is an outstanding introductory text and an essential review for pediatric anesthesia board certification and recertification. It is especially valuable to residents and trainees as well as practicing anesthesiologists who do not manage pediatric cases on a regular basis. The book concludes with detailed appendices, including a Pediatric Critical Event Checklist and a Pediatric Drug Guide.

Neuroacanthocytosis Syndromes

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Publisher : Springer Science & Business Media
ISBN 13 : 9781402028977
Total Pages : 310 pages
Book Rating : 4.0/5 (289 download)

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Book Synopsis Neuroacanthocytosis Syndromes by : Adrian Danek

Download or read book Neuroacanthocytosis Syndromes written by Adrian Danek and published by Springer Science & Business Media. This book was released on 2004-11-19 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. 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. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.

Gorlin's Syndromes of the Head and Neck

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Author :
Publisher : Oxford Monographs on Medical G
ISBN 13 : 9780195307900
Total Pages : 0 pages
Book Rating : 4.3/5 (79 download)

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Book Synopsis Gorlin's Syndromes of the Head and Neck by : Raoul C. M. Hennekam

Download or read book Gorlin's Syndromes of the Head and Neck written by Raoul C. M. Hennekam and published by Oxford Monographs on Medical G. This book was released on 2010 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This classic text covers over 700 different genetic syndromes affecting body structures, and has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. New syndromes have been added to this edition and existing syndromes have been updated. This book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolaryngologists, and dentists.

The A-Z Reference Book of Syndromes and Inherited Disorders

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Author :
Publisher : Springer
ISBN 13 : 1489969187
Total Pages : 389 pages
Book Rating : 4.4/5 (899 download)

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Book Synopsis The A-Z Reference Book of Syndromes and Inherited Disorders by : P A T R I C I A GILBERT

Download or read book The A-Z Reference Book of Syndromes and Inherited Disorders written by P A T R I C I A GILBERT and published by Springer. This book was released on 2013-12-17 with total page 389 pages. Available in PDF, EPUB and Kindle. Book excerpt: The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.

Ultrasound Diagnosis of Fetal Anomalies

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Publisher : Thieme
ISBN 13 : 3131606118
Total Pages : 388 pages
Book Rating : 4.1/5 (316 download)

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Book Synopsis Ultrasound Diagnosis of Fetal Anomalies by : Michael Entezami

Download or read book Ultrasound Diagnosis of Fetal Anomalies written by Michael Entezami and published by Thieme. This book was released on 2011-01-01 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent advances in ultrasound technology have dramatically advanced prenatal care, and its use is now standard. Medical professionals today can accurately detect fetal structural irregularities, and as a result, provide higher quality prenatal and postnatal patient care.This well-referenced teaching atlas is a comprehensive and practical overview of fetal ultrasound technology, providing up-to-date diagnosis and examination guidelines for the most clinically important anomalies and diseases. Incorporating an impressive collection of sonographic images and plates, the book provides an invaluable visual aid in recognizing even the most difficult-to-interpret ultrasound findings.Key features:- Nearly 500 high-quality sonograms and images that illustrate frequent and rare fetal irregularities, including pathophysiologic disorders- Tips for: avoiding common image misinterpretations; scanning techniques; and optimal times for ultrasound examinations- Special chapters on chromosomal disorders and their soft markers, post-infectious malformations, and multiple pregnancies- Unique design that allows quick and easy access to information- Useful data and advice for concerned parents, including Internet resources and support groupsNo professional can afford to be without this up-to-date information. Incorporating the graphic strength of an atlas with the educational utility of a textbook, ULTRASOUND DIAGNOSIS OF FETAL ANOMALIES is essential for helping specialists to reliably identify prenatal irregularities and disease for the best results.

Pharmacoepigenetics

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Publisher : Academic Press
ISBN 13 : 0128139404
Total Pages : 986 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Pharmacoepigenetics by : Ramón Cacabelos

Download or read book Pharmacoepigenetics written by Ramón Cacabelos and published by Academic Press. This book was released on 2019-06-04 with total page 986 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. - Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development - Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry - Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety - Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine

Smith's Recognizable Patterns of Human Malformation

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Publisher :
ISBN 13 :
Total Pages : 888 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Smith's Recognizable Patterns of Human Malformation by : Kenneth Lyons Jones

Download or read book Smith's Recognizable Patterns of Human Malformation written by Kenneth Lyons Jones and published by . This book was released on 1997 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

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Publisher : Oxford University Press
ISBN 13 : 0199329001
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R. J. McKinlay Gardner

Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Neurodevelopmental Disorders

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Publisher : Academic Press
ISBN 13 : 0128144106
Total Pages : 428 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Neurodevelopmental Disorders by : Bin Chen

Download or read book Neurodevelopmental Disorders written by Bin Chen and published by Academic Press. This book was released on 2020-05-24 with total page 428 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurodevelopmental Disorders, the latest release in the Comprehensive Developmental Neuroscience series, presents the most thorough coverage available, addressing all aspects on how the nervous system and its components develop. This book brings together the latest research in this rapidly evolving field, with section editors discussing the technological advances that are enabling the pursuit of new research on brain development. This volume focuses on neurodevelopmental disorders in humans and experimental organisms. Particular attention is paid to the effects of abnormal development and on new psychiatric/neurological treatments being developed based on our increased understanding of developmental mechanisms. - Features leading experts in various subfields as section editors and article authors - Presents articles that have been peer reviewed to ensure accuracy, thoroughness and scholarship - Covers disorders of the nervous system that arise through defects in neural development

Love What Matters

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Publisher : Simon and Schuster
ISBN 13 : 1501169149
Total Pages : 413 pages
Book Rating : 4.5/5 (11 download)

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Book Synopsis Love What Matters by : LoveWhatMatters

Download or read book Love What Matters written by LoveWhatMatters and published by Simon and Schuster. This book was released on 2017-05-02 with total page 413 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the bestselling tradition of The Five People You Meet in Heaven and Humans of New York comes a collection of authentic, emotional, and inspiring stories about life’s most important moments, as curated by the editors at Love What Matters. “90% of the reads bring me to tears. I just can't believe the love this world truly has when all we see is hate. This is so uplifting.” —Shelsea Where do you go when you want to feel inspired? When you want to forget about the divisiveness and the anger? For over five million people, that place is Love What Matters, a digital platform dedicated to finding and sharing the daily moments of kindness, compassion, and love that so often go overlooked. This curated collection of powerful stories features first person accounts and photographs that perfectly capture each moment: A husband learning he’s about to be a dad. A new mom embracing her body. A cashier inadvertently teaching a young girl a lesson about patience. A bagel from a stranger that saved a homeless man’s life. From long overdue adoptions to military heroes returning home; from a fireman’s touching 9/11 tribute to what an old dinner plate found at a bake sale can teach us all about life—these are the moments that matter. They are genuine. Authentic. Raw. And they are perfect in their imperfection—just like all of us. You will no doubt experience goosebumps and tears, but this mosaic of life’s moments will leave you with something even more profound: a reminder that, in the end, love always wins. “This really is the best page on Facebook. It renews your love of humanity. There are still good people. We need more reports of acts of kindness.” —Johnny

Molecular and Genetic Basis of Renal Disease

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Author :
Publisher : Elsevier Health Sciences
ISBN 13 : 1416002529
Total Pages : 604 pages
Book Rating : 4.4/5 (16 download)

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Book Synopsis Molecular and Genetic Basis of Renal Disease by : David B. Mount

Download or read book Molecular and Genetic Basis of Renal Disease written by David B. Mount and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.

NORD Guide to Rare Disorders

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Author :
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

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Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Genome Structure and Function

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 9780792345657
Total Pages : 358 pages
Book Rating : 4.3/5 (456 download)

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Book Synopsis Genome Structure and Function by : C. Nicolini

Download or read book Genome Structure and Function written by C. Nicolini and published by Springer Science & Business Media. This book was released on 1997-05-31 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proceedings of the NATO Advanced Study Institute on Genome Structure and Function, held in Marciana Marina, Elba, Italy, 13-23 June 1996