Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling PDF Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650

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Book Description
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling PDF Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650

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Book Description
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Autism Spectrum Disorders

Autism Spectrum Disorders PDF Author: M. Créteil
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318026026
Category : Medical
Languages : en
Pages : 178

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Book Description
Accurate and exhaustive, this book provides a wide overview of the current knowledge on phenotypes, mechanisms and treatment of autism spectrum disorders. It covers topics on diagnostic issues, comorbid conditions and therapeutic strategies along with a detailed discussion on the actual understanding of the pathophysiology of autism disorders. More specifically, this book reviews in detail the current knowledge on the comorbidity between mental and medical disorders, describes abnormal cognitive and social development and gives a thorough overview on genetic as well as brain imaging abnormalities observed in autism spectrum disorders. In addition, the current literature on environmental risk factors which may provide an explanation for the increased prevalence of autism is being described. The last chapter gives an extensive review of early detection and early therapeutic interventions encompassing psycho-social and pharmacological strategies. Each chapter is easy to read and gives the reader access to the most important information on each topic covered. This book provides innovative reading material for medical students, psychologists, researchers and clinicians who need accurate information on the best available diagnostic and therapeutic strategies as well as on up-to-date research data.

Molecular Biology of the Cell

Molecular Biology of the Cell PDF Author:
Publisher:
ISBN: 9780815332183
Category : Cells
Languages : en
Pages : 0

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Book Description


Genomic Disorders

Genomic Disorders PDF Author: James R. Lupski
Publisher: Springer Science & Business Media
ISBN: 1597450391
Category : Medical
Languages : en
Pages : 419

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Book Description
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Automated DNA Sequencing and Analysis

Automated DNA Sequencing and Analysis PDF Author: Mark D. Adams
Publisher: Elsevier
ISBN: 0080926398
Category : Science
Languages : en
Pages : 389

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Book Description
A timely book for DNA researchers, Automated DNA Sequencing and Analysis reviews and assesses the state of the art of automated DNA sequence analysis-from the construction of clone libraries to the developmentof laboratory and community databases. It presents the methodologies and strategies of automated DNA sequence analysis in a way that allows them to be compared and contrasted. By taking a broad view of the process of automated sequence analysis, the present volume bridges the gap between the protocols supplied with instrument and reaction kits and the finalized data presented in the research literature. It will be an invaluable aid to both small laboratories that are interested in taking maximum advantageof automated sequence resources and to groups pursuing large-scale cDNA and genomic sequencing projects. - The field of automation in DAN sequencing and analysis is rapidly moving, this book fulfils those needs, reviews the history of the art and provides pointers to future development.

The Zebrafish in Biomedical Research

The Zebrafish in Biomedical Research PDF Author: Samuel Cartner
Publisher: Academic Press
ISBN: 0128124326
Category : Science
Languages : en
Pages : 720

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Book Description
The Zebrafish in Biomedical Research: Biology, Husbandry, Diseases, and Research Applications is a comprehensive work that fulfills a critical need for a thorough compilation of information on this species. The text provides significant updates for working vivarium professionals maintaining zebrafish colonies, veterinarians responsible for their care and well-being, zoologists and ethologists studying the species, and investigators using the species to gain critical insights into human physiology and disease. As the zebrafish has become an important model organism for the study of vertebrate development and disease, organ function, behavior, toxicology, cancer, and drug discovery, this book presents an important resource for future research. - Presents a complete view of the zebrafish, covering their biology, husbandry, diseases and research applications - Includes the work of world-renowned authors - Provides the first authoritative and comprehensive treatment of zebrafish in biomedical research as part of the ACLAM series

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

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics PDF Author: Reed E. Pyeritz
Publisher: Academic Press
ISBN: 0128126825
Category : Medical
Languages : en
Pages : 384

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Book Description
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

Cell Biology by the Numbers

Cell Biology by the Numbers PDF Author: Ron Milo
Publisher: Garland Science
ISBN: 1317230698
Category : Science
Languages : en
Pages : 400

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Book Description
A Top 25 CHOICE 2016 Title, and recipient of the CHOICE Outstanding Academic Title (OAT) Award. How much energy is released in ATP hydrolysis? How many mRNAs are in a cell? How genetically similar are two random people? What is faster, transcription or translation?Cell Biology by the Numbers explores these questions and dozens of others provid

Bone Marrow Pathology

Bone Marrow Pathology PDF Author: Barbara J. Bain
Publisher: John Wiley & Sons
ISBN: 0470756896
Category : Medical
Languages : en
Pages : 513

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Book Description
Written by one of the world's leading haematologists, and three renowned histopathologists, Bone Marrow Pathology provides a comprehensive guide to the diagnosis of bone marrow disease. Now in its Third Edition, the text has been extensively revised and rewritten to reflect the latest advances in the field. Features: An extremely practical, up-to-the-minute text incorporating the new WHO classification of haematopoietic malignancies A comprehensive text written with great precision and clarity of style Incorporates a new section 'Problems and Pitfalls' - a unique section that will aid the working pathologist faced with a difficult situation An important text for the haematologist, histopathologist and haematopathologist with equal weight given to peripheral blood, aspirate, trephine biology and specialized techniques Extensively illustrated with many of the photographs being of paraffin-embedded sections Combines all the techniques now applied to bone marrow diagnosis, including immunocytochemistry, flow cytometery, immunohistochemistry and the diagnostic role of cytogenetic and molecular genetic analysis

Cardiovascular Therapeutics E-Book

Cardiovascular Therapeutics E-Book PDF Author: Elliott M. Antman
Publisher: Elsevier Health Sciences
ISBN: 1455737372
Category : Medical
Languages : en
Pages : 833

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Book Description
Manage cardiovascular problems more effectively with the most comprehensive resource available! A trusted companion to Braunwald's Heart Disease, Cardiovascular Therapeutics, 4th Edition addresses pharmacological, interventional, and surgical management approaches for each type of cardiovascular disease. This practical and clinically focused cardiology reference offers a balanced, complete approach to all of the usual and unusual areas of cardiovascular disease and specific therapies in one concise volume, equipping you to make the best choices for every patient. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Understand current approaches to treating and managing cardiovascular patients for long-term health, for complex problems, and for unusual cardiac events. Benefit from the substantial experience of Elliott M. Antman, MD, Marc S. Sabatine, MD, and a host of other respected authorities, who provide practical, evidence-based rationales for all of today's clinical therapies. Expand your knowledge beyond pharmacologic interventions with complete coverage of the most effective interventional and device therapies being used today. Easily reference Braunwald's Heart Disease, 9th Edition for further information on topics of interest. Make the best use of the latest genetic and molecular therapies as well as advanced therapies for heart failure. Cut right to the answers you need with an enhanced focus on clinically relevant information and a decreased emphasis on pathophysiology. Stay current with ACC/AHA/ESC guidelines and the best ways to implement them in clinical practice. Get an enhanced visual perspective with an all-new, full-color design throughout.