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Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology. Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation. Key features: Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms Summary boxes at the end of each chapter provide clear learning points Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study Reorganized into five sections for improved access to related topics Also new to this edition – brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the ‘go-to’ book for those studying human molecular genetics or genomics courses around the world.
An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.
There has been a rapid introduction of nucleic acid-based analysis techniques into diagnostic laboratories and routine screening procedures. This timely book presents a concise overview of the molecular diagnosis of human disease. It focuses on the techn
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
This textbook is an essential revision aid for trainees preparing for Membership of the Royal College of Physicians (MRCP) examinations. Divided into 30 sections, the book begins with discussion on common symptoms and presentations, then emergency presentations. The following sections provide in depth coverage of the diagnosis and management of diseases and disorders in different body systems. The text concludes with chapters on geriatric medicine, genetics, epidemiology, clinical pharmacology, and ECG Interpretation. Treatment protocols are current and inline with the latest international guidelines. Each chapter is highly illustrated with images and figures, as well as teaching notes and easy-to-memorise lists to assist revision. Topics frequently encountered in examinations and key points are also highlighted. Key points Practical revision aid for trainees preparing for MRCP examinations Treatment protocols inline with current international guidelines Chapters highly illustrated with images and figures, and teaching notes to assist revision Highlights topics frequently encountered in examinations
This issue of Nursing Clinics of North America is Guest Edited by Stephen D. Krau, PhD, RN, CNE, from Vanderbilt University and will focus on genomics. Article topics will include Genetic and Genomic Testing, Integrating Genomics into Research, Genomic Assessments and Interventions in Psychiatric Nursing Practice, Genomics in Critical Care, Cardiomyopathy and Genetics, Genetics and Chronic Diseases, Genomics and Patients with Rare Chronic Diseases, Epigenetics and the implications for disease processes, Impact of Genetics on Oncology Nursing, and Pharmacogenetics.
"Provides an in-depth review of current print and electronic tools for research in numerous disciplines of biology, including dictionaries and encyclopedias, method guides, handbooks, on-line directories, and periodicals. Directs readers to an associated Web page that maintains the URLs and annotations of all major Inernet resources discussed in th
This book provides a comprehensive overview of European Patent Law. It presents a critical analysis of the European patent law system and the proposed changes to it. The book explores the strengths and weaknesses of the European Patent Convention, and the interaction between the national and the European level, as well as across borders.