Emery and RimoinÄËs Principles and Practice of Medical Genetics and Genomics : Developmental Disorders - Pyeritz

Emery and RimoinÄËs Principles and Practice of Medical Genetics and Genomics

Developmental Disorders

By: Pyeritz, Korf, Grody

Hardcover | 4 November 2024 | Edition Number 7

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For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications in medicine more broadly. In Developmental Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of developmental disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and healthcare professionals will find new and fully revised chapters on human developmental genetics as well as the genetics of sexual development; clefting, dental, and craniofacial syndromes; craniosynostosis; rasopathies; sex-chromosome abnormalities; and autosomal deletions among other disorders. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

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