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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics | Perinatal and Reproductive Genetics

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پروسه چاپ این کتاب بین 5 الی 7 روز کاری میباشد

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پشتیبانی و پاسخگویی

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9780128152362

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318

نقد و بررسی اجمالی

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Perinatal and Reproductive Genetics

کتاب افست زبان اصلی | امری و رایمونز ژنتیک تولید مثل و پریناتال | چاپ رنگی | اشراقیه

۷th Edition | 2021

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics : Perinatal and Reproductive Genetics , Seventh Edition 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 in this growing field. The book is ideal 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 to medicine more broadly.

Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.

About the Author

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated.
Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.
امری و رایمونز ژنتیک تولید مثل و پریناتال
  • Publisher ‏ : ‎ Academic Press ; 7th edition (November 29, 2021)
  • Language ‏ : ‎ English
  • Hardcover ‏ : ‎ ۳۱۸ pages
  • ISBN-10 ‏ : ‎ ۰۱۲۸۱۵۲۳۶۲
  • ISBN-13 ‏ : ‎ ۹۷۸-۰۱۲۸۱۵۲۳۶۲
  • Item Weight ‏ : ‎ ۱.۷۴ pounds
  • Dimensions ‏ : ‎ ۷.۵ x 9.25 inches
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