Waardenburg Syndrome PDF Download
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Author: Alice Kahn
Publisher: Plural Publishing
ISBN: 1597567620
Category : Medical
Languages : en
Pages : 151
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Book Description
Author: Alice Kahn
Publisher: Plural Publishing
ISBN: 1597567620
Category : Medical
Languages : en
Pages : 151
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Book Description
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Author:
Publisher:
ISBN: 0199211779
Category : Nursing
Languages : en
Pages : 601
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Book Description
Author: Patrick J. Willems
Publisher: CRC Press
ISBN: 0824756886
Category : Medical
Languages : en
Pages : 453
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Book Description
Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.
Author: Torello Lotti
Publisher: Springer Nature
ISBN: 3030508234
Category : Medical
Languages : en
Pages : 198
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Book Description
This book provides a guide to the diagnosis and management of pigmentary disorders. Each chapter explores a different clinical case to give the reader an interdisciplinary understanding of treatment options. Particular attention is given to the treatment of hypopigmentation, hypomelanosis and discoloration with cases highlighting the effects of drug intake, genetic alterations and the polluted environment. Clinical Cases in Pigmentary Disorders examines therapeutic approaches through evidence-based best practice techniques and is relevant to dermatologists, oncologists, pharmacologists and pathologists.
Author: Jean-Paul Ortonne
Publisher: Springer Science & Business Media
ISBN: 1461592720
Category : Medical
Languages : en
Pages : 774
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Book Description
Leukoderma is a generic term for any pigmentary dilution, be it congenital or acquired, circumscribed or generalized, devoid of or partially lacking in pig mentation. In the approach to the diagnosis of leukoderma, we have generally first considered the age of onset, whether leukoderma was congenital or ac quired, the extent and pattern of involvement, and the degree of pigmentary dilution. The organization of this monograph reflects this approach. For ex ample, we have separated the section devoted to various disease entities into diffuse and circumscribed leukoderma and the latter into various etiologies such as genetic, metabolic, infectious, and endocrinologic. One of several justifications for this monograph is to present an approach to the diagnosis of leukoderma, as detailed in Part II. In formulating a guide for the physician, we have found some limitations to our previous approach; we therefore offer the following new classification based upon a clini cal-pathologic correlation. This could provide the means to describe both the clinical and pathologic findings in one term.
Author: Robert J. Gorlin
Publisher: McGraw-Hill Companies
ISBN:
Category : Medical
Languages : en
Pages : 846
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Book Description
Author: Thomas Brandt
Publisher: Springer Science & Business Media
ISBN: 1447133420
Category : Medical
Languages : en
Pages : 347
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Book Description
A variety of syndromes are hidden behind the term vertigo; the interdisciplinary approach here shows how surprisingly easy it is to correctly diagnose and effectively treat them. The book's clinical practicality uncovers the key elements necessary for understanding vertigo: the sensorimotor physiology, careful history-taking, and otoneurological examination. For each syndrome, there is a full description of the clinical features and diagnostic procedure. Numerous tables and thorough cross-referencing guide you to differential diagnosis. Special emphasis is placed on the relationship between the management and the underlying pathological mechanism of the disease.
Author: Helga V. Toriello
Publisher: Oxford University Press
ISBN: 0199313881
Category : Medical
Languages : en
Pages : 749
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Book Description
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.
Author: Robert J. Gorlin
Publisher: Oxford University Press, USA
ISBN: 9780195065527
Category : Medical
Languages : en
Pages : 514
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Book Description
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.
