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Orphan is about the struggle to save the lives of children who, because of an unlucky roll of the genetic dice, are born with any one of several thousand rare genetic disorders. Many are burdened with diseases that carry mysterious names, some of which you can read about for the first time in this book, along with compelling stories about the physicians, scientists, and parents who have taken them on. The diseases include phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, and Friedreich's ataxia-just a few of the more than 1000 genetic disorders that are well-described and many more that are not. Many manifest in infancy. Some show up in mid-childhood, others later in childhood, and still others among adults. They touch almost every extended family. Orphan is more than a book about disease and research--it gives voice to thousands of people who, all too often, have endured terrible illnesses, bravely faced arduous clinical trials, and, sometimes, have gained victories, almost always in silence. This book recounts extraordinary breakthroughs and hopes for the future. Many of the disorders that will end our lives are in some part genetically influenced. We really are all orphans, and this book is for all of us.

Specially designed for dermatologists, pediatricians, and family physicians, this user-friendly guide to genetic skin disorders is an ideal resource for both board preparation and clinical practice. To help make learning a difficult subject more efficient and effective, the text takes a user-friendly, visual approach, featuring more than 300 full-color illustrations and a format designed for maximum retention of content.You'll find features like these—Each syndrome is presented in easy-to-read, two-page spreads, allowing you to read material in depth or at-a-glanceFull body diagrams and clinical photographs of each syndromeBulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosisBoxed features highlight clinical pearls and add insight and breadth to the materialNew syndromes such as PHACE, AEC, EEC, Griscelli, and Birt-Hogg-DubeAs a board preparation tool or on-the-job resource, this powerful reference is valued for its breadth and depth as well as its compact, efficient format.

One of a series of monographs intended to bring specialists up to date in molecular genetics in specific ways relevant to the given specialty. Following general information about genetics, Marian (cardiology, Baylor College of Medicine) discusses conditions of interest to cardiologists including hypertrophic, familial, and X-lined cardiomyopathy; dilated cardiomyopathy associated with triplet repeat syndromes; arrhythmogenic right ventricular, Marfan's, and Ehlers-Danlos, Holt-Oram, DiGeorge, Velocardiofacial, and Noonan syndromes; supravalvular aortic stenosis; familial atrial septal defect, atrial fibrillation, Wolff-Parkinson-White, and myxoma syndromes; familial patent ductus arteriosus and defective apolipoprotein B100; hypobetaliproproteinaemia; monogenic and polygenic forms of hypertension; and coronary atherosclerosis. Contains a few color illustrations. Lacks an index. Distributed by Harwood Academic Publishers. Annotation c. Book News, Inc., Portland, OR (booknews.com)

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Specially designed for dermatologists, pediatricians, and family physicians, this user-friendly guide to genetic skin disorders is an ideal resource for both board preparation and clinical practice. To help make learning a difficult subject more efficient and effective, the text takes a user-friendly, visual approach, featuring more than 300 full-color illustrations and a format designed for maximum retention of content.

Unread book in perfect condition.

To stay current with their profession, speech-language, and hearing clinicians and students must have a strong working knowledge of genetic disorders and their associated symptoms. Dr. Shprintzen's comprehensive manual provides a clear, understandable overview of human genetics and the modes of inheritance directly related to communicative disorders, as well as the proper methodology taking a detailed medical, behavioral, and genetic history for diagnosis, treatment, and prognosis. TEXTBOOK

The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs"Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

"The most comprehensive treatment of genetic variation and disorders in 'peoples of African origin' yet to appear. It is an encyclopedic work, broad in the scope of its mission and commendable in its achievement." -- American Journal of Human Genetics "This volume is an excellent introduction to an interesting and important topic and is recommended for students, practitioners, and teachers in human genetics, biological anthropology, medicine, the health professions, and biology in general." -- Quarterly Review of BiologyThe misuse of evidence of genetic differences among human populations to "prove" theories of white supremacy has seriously compromised studies of genetic variation among racial groups. But there is no question, argue James Bowman and Robert Murray, that genetic disorders do vary from one population to another. Emphasizing the positive value of genetic differences, Bowman and Murray offer an overview of the diverse African populations and trace their migrations both within Africa and throughout the world. Topics include skeletal variation, pigmentation, polymorphisms, hemoglobinpathies and thalassemias, malaria, lactose intolerance, multiple births, congenital malformations, hypertension, and diabetes. The authors also explore the ethical and legal implications of genetic counseling for minority populations. Based on a careful survey and collation of the literature as well as on the authors' original research, Genetic Variation and Disorders in Peoples of African Origin provides more information on this subject than has been previously available in a single, concise volume.

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There have been many exciting advances in our understanding of mammalian sex determination and differentiation in the last decade. Using these advances to elucidate clinical conditions of abnormal sexual development, the authors bring together great expertise in molecular endocrinology, molecular genetics, and dysmorphology. The text begins with a discussion of normal gonadal and sexual development that presents enough embryology, biochemistry, and endocrinology to make the remaining chapters easy to assimilate. Then the authors discuss overarching clinical issues that are common to genetic abnormalities of gonadal and sexual development, providing a detailed account of genetic causes of gonadal maldevelopment, followed by a compendium of the singular, syndromal, endocrinologic, and systemic-metabolic genetic causes of sexual maldevelopment. The final section describes genetic forms of gamete failure. Seldom dogmatic, this unconventional textbook frequently presents alternatives, highlights speculation, raises questions, and attempts to provide answers. Yet it will be a uniquely valuable reference on an area of genetic medicine where much has happened in recent years. This book will be welcomed by medical geneticists, genetic counselors, endocrinologists, gynecologists, urologists, and students who need fully-referenced information about the genetic aspects of humans sexual maldevelopment in order to better manage their patients and their patients families.

There have been many exciting advances in our understanding of mammalian sex determination and differentiation in the last decade. Using these advances to elucidate clinical conditions of abnormal sexual development, the authors bring together great expertise in molecular endocrinology, molecular genetics, and dysmorphology. The text begins with a discussion of normal gonadal and sexual development that presents enough embryology, biochemistry, and endocrinology to make the remaining chapters easy to assimilate. Then the authors discuss overarching clinical issues that are common to genetic abnormalities of gonadal and sexual development, providing a detailed account of genetic causes of gonadal maldevelopment, followed by a compendium of the singular, syndromal, endocrinologic, and systemic-metabolic genetic causes of sexual maldevelopment. The final section describes genetic forms of gamete failure. Seldom dogmatic, this unconventional textbook frequently presents alternatives, highlights speculation, raises questions, and attempts to provide answers. Yet it will be a uniquely valuable reference on an area of genetic medicine where much has happened in recent years. This book will be welcomed by medical geneticists, genetic counselors, endocrinologists, gynecologists, urologists, and students who need fully-referenced information about the genetic aspects of humans sexual maldevelopment in order to better manage their patients and their patients families.

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Specially designed for dermatologists, pediatricians, and family physicians, this user-friendly guide to genetic skin disorders is an ideal resource for both board preparation and clinical practice. To help make learning a difficult subject more efficient and effective, the text takes a user-friendly, visual approach, featuring more than 300 full-color illustrations and a format designed for maximum retention of content.You'll find features like these—Each syndrome is presented in easy-to-read, two-page spreads, allowing you to read material in depth or at-a-glanceFull body diagrams and clinical photographs of each syndromeBulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosisBoxed features highlight clinical pearls and add insight and breadth to the materialNew syndromes such as PHACE, AEC, EEC, Griscelli, and Birt-Hogg-DubeAs a board preparation tool or on-the-job resource, this powerful reference is valued for its breadth and depth as well as its compact, efficient format.

Unread book in perfect condition.

One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. With the enormous advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Thus, a further aim of this atlas is to provide the reader with a basic understanding of the molecular pathology of these conditions.The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions. In addition, a concise description of the conditions is provided featuring structured information on “Synonyms”, “Major clinical findings”, “Genetic transmission”, “Differential diagnosis”, “Molecular Pathology”, and references to Mendelian Inheritance in Man (OMIM).The book is designed for medical geneticists, radiologists, pediatricians, hand surgeons, orthopedic surgeons, as well as medical personnel and other physicians involved in the evaluation and treatment of patients with abnormal limbs.

2nd edition. 200 pages. 9.00x6.00x0.46 inches. In Stock.