Emery and Rimoin's Essential Medical Genetics

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Publisher : Elsevier
ISBN 13 : 0124169821
Total Pages : 647 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Emery and Rimoin's Essential Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Essential Medical Genetics written by David L. Rimoin and published by Elsevier. This book was released on 2013-05-15 with total page 647 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

Emery and Rimoin's Principles and Practice of Medical Genetics

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Publisher :
ISBN 13 :
Total Pages : 1264 pages
Book Rating : 4.:/5 ( download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by David L. Rimoin and published by . This book was released on 2007 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt: "For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

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Publisher : Academic Press
ISBN 13 : 0128152370
Total Pages : 320 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

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Author :
Publisher : Academic Press
ISBN 13 : 0128126825
Total Pages : 384 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2022-08-26 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. Fully addresses medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches and treatment methods Provides genetic researchers, students and health professionals with new and updated chapters on the genetic basis of, and treatment pathways for, red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions Includes color images supporting identification, concept illustration and method processing Features contributions by leading international researchers and practitioners of medical genetics Includes a robust companion website that offers lecture slides, image banks and links to outside resources and articles to help readers stay up-to-date on the latest developments in the field

Clinical Cardiogenetics

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Publisher : Springer Science & Business Media
ISBN 13 : 1849964718
Total Pages : 455 pages
Book Rating : 4.8/5 (499 download)

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Book Synopsis Clinical Cardiogenetics by : H.F. Baars

Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 455 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

Essential Medical Genetics

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Author :
Publisher : Wiley-Blackwell
ISBN 13 : 9780865426665
Total Pages : 248 pages
Book Rating : 4.4/5 (266 download)

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Book Synopsis Essential Medical Genetics by : Michael Connor

Download or read book Essential Medical Genetics written by Michael Connor and published by Wiley-Blackwell. This book was released on 1997-04-29 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.

Emery and Rimoin's Principles and Practice of Medical Genetics

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Publisher :
ISBN 13 : 9789996004674
Total Pages : 3871 pages
Book Rating : 4.0/5 (46 download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : Alan E. H. Emery

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by Alan E. H. Emery and published by . This book was released on 2007 with total page 3871 pages. Available in PDF, EPUB and Kindle. Book excerpt: "For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Medical Genetics

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Publisher :
ISBN 13 :
Total Pages : 392 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Medical Genetics by : Lynn B. Jorde

Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2006 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.

A Short History of Medical Genetics

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Publisher : Oxford University Press
ISBN 13 : 0195187504
Total Pages : 570 pages
Book Rating : 4.1/5 (951 download)

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Book Synopsis A Short History of Medical Genetics by : Peter S. Harper

Download or read book A Short History of Medical Genetics written by Peter S. Harper and published by Oxford University Press. This book was released on 2008 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Genetic Disorders and the Fetus

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Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

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Author :
Publisher : Academic Press
ISBN 13 : 9780128152348
Total Pages : 0 pages
Book Rating : 4.1/5 (523 download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2023-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications in medicine more broadly. In Developmental Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of developmental disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and healthcare professionals will find new and fully revised chapters on human developmental genetics as well as the genetics of sexual development; clefting, dental, and craniofacial syndromes; craniosynostosis; rasopathies; sex-chromosome abnormalities; and autosomal deletions among other disorders. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

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Author :
Publisher : Elsevier
ISBN 13 : 0128152354
Total Pages : 0 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2023-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. This updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications in medicine more broadly. Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included. Revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to developmental disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students and health professionals with an in-depth examination of the genetic basis of a range of developmental disorders, including clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics Presents a robust companion website that offers further teaching tools and links to outside resources and articles

Microbial Forensics

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Publisher : Academic Press
ISBN 13 : 9780123820075
Total Pages : 744 pages
Book Rating : 4.8/5 (2 download)

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Book Synopsis Microbial Forensics by : Bruce Budowle

Download or read book Microbial Forensics written by Bruce Budowle and published by Academic Press. This book was released on 2010-10-27 with total page 744 pages. Available in PDF, EPUB and Kindle. Book excerpt: Microbial Forensics is a rapidly evolving scientific discipline. In the last decade, and particularly due to the anthrax letter attacks in the United States, microbial forensics has become more formalized and has played an increasingly greater role in crime investigations. This has brought renewed interest, development and application of new technologies, and new rules of forensic and policy engagement. It has many applications ranging from biodefense, criminal investigations, providing intelligence information, making society more secure, and helping protect precious resources, particularly human life. A combination of diverse areas is investigated, including the major disciplines of biology, microbiology, medicine, chemistry, physics, statistics, population genetics, and computer science. Microbial Forensics, Second Edition is fully revised and updated and serves as a complete reference of the discipline. It describes the advances, as well as the challenges and opportunities ahead, and will be integral in applying science to help solve future biocrimes. A collection of microbiology, virology, toxicology and mycology as it relates to forensics, in one reference New and expanded content to include statistical analysis of forensic data and legal admissibility and the standards of evidence, to name a few Includes research information and application of that research to crime scene analysis, which will allow practitioners to understand and apply the knowledge to their practice with ease

Emery and Rimoin's Principles and Practice of Medical Genetics

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Author :
Publisher :
ISBN 13 : 9780443075353
Total Pages : 1733 pages
Book Rating : 4.0/5 (753 download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : Alan E. H. Emery

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by Alan E. H. Emery and published by . This book was released on 1998-04-01 with total page 1733 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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Publisher : Elsevier
ISBN 13 : 0124105491
Total Pages : 1464 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg

Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1464 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Vascular Malformations

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Author :
Publisher : Springer Nature
ISBN 13 : 9811597626
Total Pages : 303 pages
Book Rating : 4.8/5 (115 download)

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Book Synopsis Vascular Malformations by : Ajay K. Khanna

Download or read book Vascular Malformations written by Ajay K. Khanna and published by Springer Nature. This book was released on 2021-01-05 with total page 303 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book covers all aspects of vascular malformations including classification, embryology, genetics, clinical approach, investigations, management, controversies and key points to remember. Chapters cover recent changes in detail in various aspects, such as classification, genetic decoding, minimal intervention, selective approach and investigations for different types. It offers clear guidance on diagnostic protocol and surgical decision making with changing scenario leading to evolving endovascular and radiological interventions. The book is useful for vascular surgeon, pediatric surgeon, general surgeon, plastic surgeon and intervention radiologist as well as clinical research scholars, surgical oncologists and radiologists.

History of Human Genetics

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Author :
Publisher : Springer
ISBN 13 : 331951783X
Total Pages : 576 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis History of Human Genetics by : Heike I. Petermann

Download or read book History of Human Genetics written by Heike I. Petermann and published by Springer. This book was released on 2017-05-10 with total page 576 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.