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Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.

Human genetics --- medische genetica

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"In this book, the distinguished geneticist David Botstein offers help and advice to scientists and physicians daunted by the arcane technical terms that flourish in his discipline. As knowledge of gene function has progressed over the past century, it has acquired a vocabulary of specialized, sometimes confusing, terms to explain some of its fundamental principles; how traits and diseases are inherited; how genes are organized and regulated in the genome; and how the genetic code is read and translated by cells. These terms often prevent the less expert from fully understanding the concepts that underlie the power of genetic studies. This is not just a theoretical handicap. As more and more individuals learn about their genomes, the information these sequences contain cannot be understood or explained without reference to the basic ideas of genetics. Botstein draws on his long experience as a teacher and pioneering scientist to explain and illuminate what many genetic terms mean and how they entered common usage. To colleagues in the field, his message is one of encouragement, to "make our work more generally accessible by modernizing, clarifying, and simplifying the language we use and teach." "This is a book about the conceptual language of genetics. There is a need for special words and terms to deal with some of the essential abstractions in genetics; these are the focus of this book. It is intended to help readers with diverse interests and experience to think about genetic analysis in a more sophisticated and creative way"

Human genetics --- medische genetica --- Genetics.

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The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition a multi/chapter section giving an overview on the main model organisms (mouse, dog, worm, fly, fish) used in human genetics research has been introduced. This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field.

Human genetics --- medische genetica --- genetica

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Human genetics --- medische genetica --- genetica

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Human genetics --- medische genetica --- genetica