genetics of deafness monographs in human genetics vol 20

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Genetics Of Deafness

Author : B. Vona
ISBN : 9783318058567
Genre : Medical
File Size : 80. 18 MB
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Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness research and the current status and future promise of gene therapy for hearing restoration. The book begins by bringing attention to how hearing loss affects the individual and society. Methods of hearing loss detection and management throughout the lifespan are highlighted as is a particularly new development in newborn hearing screening. The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. Additional topics include current research interests, ranging from novel gene identification to their functional validation in the mouse and zebrafish. The book ends with a chapter on the state of the art of gene therapy—an area that is certain to gain increasing attention as molecular mechanisms of deafness are better understood. Genetics of Deafness, written by leading authors in the field, is a must read for clinicians, researchers, and students. It provides much needed insight into the diagnosis and research of hereditary hearing loss.

Genetics Of Human Infertility

Author : P.H. Vogt
ISBN : 9783318060980
Genre : Medical
File Size : 27. 31 MB
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Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.

Hereditary Hearing Loss And Its Syndromes

Author : Helga V. Toriello
ISBN : 9780199313884
Genre : Medical
File Size : 77. 12 MB
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This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Hereditary Hearing Loss And Its Syndromes

Author : Robert J. Gorlin
ISBN : 0195065522
Genre : Medical
File Size : 45. 67 MB
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This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes are very detailed. Introductory chapters deal with the history of the field, clinical approach, embryology of the ear, tooth anomalies and hearing loss, and related endocrine and metabolic disorders. Throughout, the authors pay careful attention to nomenclature and classification. This will be an invaluable resource for all professionals concerned with genetic hearing loss, including medical geneticists, audiologists and otolaryngologists.

The Publishers Trade List Annual

Author :
ISBN : UOM:39015085507559
Genre : Publishers' catalogs
File Size : 21. 54 MB
Format : PDF
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Monographs In Human Genetics

Author :
ISBN : UCAL:B3834793
Genre : Human genetics
File Size : 27. 4 MB
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Scott Brown S Otorhinolaryngology Head And Neck Surgery 7ed

Author : Michael J Gleeson
ISBN : 9781444109832
Genre : Medical
File Size : 72. 77 MB
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Scott-Brown's Otorhinolaryngology is used the world over as the definitive reference for trainee ENT surgeons, audiologists and trainee head and neck surgeons, as well as specialists who need detailed, reliable and authoritative information on all aspects of ear, nose and throat disease and treatment. This new edition has been fully updated by an international team of editors and contributors and is highly illustrated in colour throughout. The majority of the chapters are evidence-based and each contains useful features including key points, best clinical practice guidelines, details of the search strategies used to prepare the material, and suggestions for future research. The print edition is accompanied by a fully searchable electronic edition, containing the same content as the print edition, with references linked to Medline. This will provide trainee surgeons (ENT and Head and Neck), audiologists and ENT physicians with quick access to relevant information about clinical conditions, and provide them with a starting point for further research.

The Genetic Basis Of Common Diseases

Author : Richard A. King
ISBN : 9780195125825
Genre : Medical
File Size : 81. 35 MB
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Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. The second edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthritis, skin cancer, other common skin diseases, prostate cancer and migraine headaches; problems seen by all physicians. Chapters on the evolution of human genetic disease and on animal models add important background information on the complexities of these diseases. Unique clinical applications of genetics to common diseases are covered in additional new chapters on genetic counselling, pharmacogenetics, and the genetic consequences of modern therapeutics.

Human Malformations And Related Anomalies

Author : Roger E. Stevenson
ISBN : 9780199748082
Genre : Medical
File Size : 72. 92 MB
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This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

The Oxford Handbook Of Deaf Studies Language And Education Volume 1 Second Edition

Author : Marc Marschark
ISBN : 019975098X
Genre : Language Arts & Disciplines
File Size : 61. 24 MB
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In this updated edition of the landmark original volume, a range of international experts present a comprehensive overview of the field of deaf studies, language, and education. Written for students, practitioners, and researchers, The Oxford Handbook of Deaf Studies, Language, and Education, Volume 1, is a uniquely ambitious work that has altered both the theoretical and applied landscapes.

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