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Syndromes of the Head and Neck
This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. He...
Perspectives on the Face
"This book explores the face from a number of perspectives: evolutionary, embryonic, developmental, postnatal, anatomic, physiologic, dysmorphic, genetic, surgical psychosocial, sociocultural, symbolic, and artistic. These are diverse fields, yet they are brought together here to help form an integrated understanding and appreciation of this fascinating subject. Like images seen in a kaleidoscope, faces are infinitely complex and beautiful. They are woven into our daily lives, our dreams, and our memories."--BOOK JACKET.
Dento/Oro/Craniofacial Anomalies and Genetics
Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. This book addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy well-illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing the necessary knowledge for diagnostic purposes, as well as giving insight into recent development for each specific condition. The clarity and format of this book make it an ideal support guide both in the clinic and while conducting research. - Comprehensive examination of dento/oro/craniofacial anomalies - Well-illustrated examples - Presented in a compact, easy to use format
Mendelian Inheritance in Man
A classic bibliographic guide to human genetics, first published in book form in 1966. Each entry consists of six parts: a preferred designation, followed in parentheses by frequently used synonyms; a brief description of the phenotype(s); the nature of the basic defect; a resume of genetic information, including mapping and molecular genetic details; allelic variants; and key references. This edition contains 36,987 references, mainly to the periodical literature, and cites 54,623 authors. Based on a continuously updated online version, only four months separate closure of the file for the edition and the finished book. Annotation copyrighted by Book News, Inc., Portland, OR
Management of Genetic Syndromes
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
Epstein's Inborn Errors of Development
Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
JIMD Reports, Volume 45
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
American Journal of Mental Retardation
Includes the association's conference proceedings and addresses.
Cassidy and Allanson's Management of Genetic Syndromes
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routin...
