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Medical Genetics

Medical Genetics
  • Author : Lynn B. Jorde,John C. Carey,Michael J. Bamshad,Raymond L. White
  • Publisher :Unknown
  • Release Date :2006
  • Total pages :363
  • ISBN : UOM:39015063152527
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Summary : '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.

The Evolution of Medical Genetics

The Evolution of Medical Genetics
  • Author : Peter S. Harper
  • Publisher :Unknown
  • Release Date :2019-10-17
  • Total pages :353
  • ISBN : 9781000693263
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Summary : This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author's personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it also draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, which has provided invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics.

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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher :Unknown
  • Release Date :2019-09-04
  • Total pages :594
  • ISBN : 9780128126806
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Summary : Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, 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. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. Offers pathways for diagnosis, prevention and disease management Includes color images supporting identification, concept illustration and method processing Features contributions by leading international researchers and practitioners of medical genetics

Principles of Medical Genetics

Principles of Medical Genetics
  • Author : Thomas D. Gelehrter,Francis S. Collins,David Ginsburg
  • Publisher :Unknown
  • Release Date :1998
  • Total pages :410
  • ISBN : 0683034456
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Summary :

Next Generation Sequencing Technologies in Medical Genetics

Next Generation Sequencing Technologies in Medical Genetics
  • Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
  • Publisher :Unknown
  • Release Date :2013-10-16
  • Total pages :94
  • ISBN : 9781461490326
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Summary : This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.​

American Journal of Medical Genetics

American Journal of Medical Genetics
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :1986
  • Total pages :229
  • ISBN : UCAL:B3529717
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Summary :

Medical Genetics

Medical Genetics
  • Author : G. Bradley Schaefer,Thompson Jr.
  • Publisher :Unknown
  • Release Date :2013-11-22
  • Total pages :452
  • ISBN : 9780071819282
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Summary : A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Medical Genetics

Medical Genetics
  • Author : Ian D Young
  • Publisher :Unknown
  • Release Date :2010-09-02
  • Total pages :304
  • ISBN : 9780199594610
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Summary : Medical Genetics provides medical and biomedical students with an understanding of the basic principles of human genetics as they relate to clinical practice, showing how our genome lies at the heart of our health and well-being.

Survival Analysis in Medicine and Genetics

Survival Analysis in Medicine and Genetics
  • Author : Jialiang Li,Shuangge Ma
  • Publisher :Unknown
  • Release Date :2013-06-04
  • Total pages :381
  • ISBN : 9781439893142
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Summary : Using real data sets throughout, Survival Analysis in Medicine and Genetics introduces the latest methods for analyzing high-dimensional survival data. It provides thorough coverage of recent statistical developments in the medical and genetics fields. The text mainly addresses special concerns of the survival model. After covering the fundamentals, it discusses interval censoring, nonparametric and semiparametric hazard regression, multivariate survival data analysis, the sub-distribution method for competing risks data, the cure rate model, and Bayesian inference methods. The authors then focus on time-dependent diagnostic medicine and high-dimensional genetic data analysis. Many of the methods are illustrated with clinical examples. Emphasizing the applications of survival analysis techniques in genetics, this book presents a statistical framework for burgeoning research in this area and offers a set of established approaches for statistical analysis. It reveals a new way of looking at how predictors are associated with censored survival time and extracts novel statistical genetic methods for censored survival time outcome from the vast amount of research results in genomics.

Handbook of Epigenetics

Handbook of Epigenetics
  • Author : Trygve Tollefsbol
  • Publisher :Unknown
  • Release Date :2017-07-10
  • Total pages :682
  • ISBN : 9780128054772
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Summary : Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine Written at a verbal and technical level that can be understood by scientists and college students Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials

Medical Genetics at a Glance

Medical Genetics at a Glance
  • Author : Dorian J. Pritchard,Bruce R. Korf
  • Publisher :Unknown
  • Release Date :2013-07-08
  • Total pages :232
  • ISBN : 9781118689011
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Summary : Medical Genetics at a Glance covers the core scientificprinciples necessary for an understanding of medical genetics andits clinical applications, while also considering the socialimplications of genetic disorders. This third edition has been fully updated to include the latestdevelopments in the field, covering the most common geneticanomalies, their diagnosis and management, in clear, concise andrevision-friendly sections to complement any health sciencecourse. Medical Genetics at a Glance now has a completely revisedstructure, to make its content even more accessible. Other featuresinclude: • Three new chapters on Gene Identification, The Biologyof Cancer, and Genomic Approaches to Cancer • A much extended treatment of BiochemicalGenetics • A completely revised chapter on The Cell Cycle,explaining principles of biochemistry and genetics which arefundamental to understanding cancer causation • Two new chapters on Cardiac DevelopmentalPathology • An extended Case Studies section Providing a broad understanding of one of the most rapidlyprogressing topics in medicine, Medical Genetics at a Glanceis perfect for students of medicine, molecular biology, geneticsand genetic counselling, and is a previous winner of a BMAAward.

Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 2002: Related agencies

Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 2002: Related agencies
  • Author : United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
  • Publisher :Unknown
  • Release Date :2001
  • Total pages :229
  • ISBN : UCBK:C081466001
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Summary :

Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 2002

Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 2002
  • Author : United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
  • Publisher :Unknown
  • Release Date :2001
  • Total pages :9
  • ISBN : UCR:31210016373506
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Summary :

Gene Expression and Control

Gene Expression and Control
  • Author : Fumiaki Uchiumi
  • Publisher :Unknown
  • Release Date :2019-04-17
  • Total pages :200
  • ISBN : 9781789855173
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Summary : Transcription is the most fundamental nuclear event, by which the information of nucleotide sequences on DNA is transcribed into RNA by multiple proteins, including RNA polymerases. Transcription determines the functions of proteins and the behaviour of cells, appropriately responding to environmental changes.This book is intended for scientists, especially those who are interested in the future prospect of gene expression and control in medicine and industry. This book consists of 9 chapters, divided into four parts. Each chapter is written by experts both in the basic and applied scientific field. A collection of articles presented by active and laboratory-based investigators provides evidence from the research, giving us a rigid platform to discuss "Gene Expression and Control."

Social and Psychological Aspects of Applied Human Genetics

Social and Psychological Aspects of Applied Human Genetics
  • Author : James R. Sorenson,John E. Fogarty International Center for Advanced Study in the Health Sciences
  • Publisher :Unknown
  • Release Date :1972
  • Total pages :98
  • ISBN : MINN:31951D03005004Y
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Summary : About 1400 references to books and journal articles "primarily concerned with social and psychological issues of applied human genetics in general, and genetic counseling in particular". Excludes literature dealing with ethical or proscriptive areas. Also covers foreign-language titles. Citations mostly from 1960's through 1972. Classified arrangement. No index.

Essential Medical Genetics, Includes Desktop Edition

Essential Medical Genetics, Includes Desktop Edition
  • Author : Edward S. Tobias,Michael Connor,Malcolm Ferguson-Smith
  • Publisher :Unknown
  • Release Date :2011-03-21
  • Total pages :344
  • ISBN : 1405169745
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Summary : Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.

Genetics and Genomics in Medicine

Genetics and Genomics in Medicine
  • Author : Tom Strachan,Judith Goodship,Patrick Chinnery
  • Publisher :Unknown
  • Release Date :2014-06-02
  • Total pages :544
  • ISBN : 9781317594307
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Summary : Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Understanding Genetics

Understanding Genetics
  • Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
  • Publisher :Unknown
  • Release Date :2009
  • Total pages :100
  • ISBN : 9780982162217
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Summary : The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Emery and Rimoin's Principles and Practice of Medical Genetics

Emery and Rimoin's Principles and Practice of Medical Genetics
  • Author : David L. Rimoin,Alan E. H. Emery,James Michael Connor,Reed E. Pyeritz,Bruce R. Korf
  • Publisher :Unknown
  • Release Date :2002
  • Total pages :1230
  • ISBN : 0443064342
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Summary :

Advances in Research on Down Syndrome

Advances in Research on Down Syndrome
  • Author : Subrata Dey
  • Publisher :Unknown
  • Release Date :2018-01-31
  • Total pages :148
  • ISBN : 9789535137627
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Summary : This book provides a concise yet comprehensive source of current information on Down syndrome. It focuses on exciting areas of research on chromosome editing, neurogenomics and diseases associated with Down syndrome. Research workers, scientists, medical graduates and physicians will find this book as an excellent source for consultation and references. Key features of this book are chromosome engineering in Down syndrome, mental retardation and cognitive disability, prenatal diagnosis and diseases associated with Down syndrome. Although aimed primarily for research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be exciting to wider audience, especially parents, relatives and health care providers who work with infants and children with Down syndrome.

National Medical Audiovisual Center Catalog

National Medical Audiovisual Center Catalog
  • Author : National Medical Audiovisual Center
  • Publisher :Unknown
  • Release Date :1977
  • Total pages :229
  • ISBN : UIUC:30112084297420
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Summary : Films for the health sciences.