QR مرجع خلاصه اصول ژنتیک پزشکی و ژنومیکس امری 2022

فهرست ژنتیک امری اندیشه رفیع

• 1_تاریخچه و تاثیر ژنتیک در پزشکی
• 2_اساس سلولی و مولکولی وراثت
• 3_کروموزوم ها و تقسیم سلولی
• 4_شناخت عامل بیماریهای تک ژنی از طریق شناسایی ژن های بیماریزا
• 5_تکنیک های آزمایشگاهی برای تشخیص اختلال های تک ژنی
• 6_الگوهای وراثت
• 7_ژنتیک جمعیت و محاسباتی
• 8_محاسبه ریسک(تخمین ریسک
• 9_ژنتیک تکوین
• 10_ژنتیک بیماری های شایع
• 11_غربالگری بیماری های ژنتیکی
• 12_هموگلوبین و هموگلوبینوپاتی ها
• 13_ایمونوژنتیک
• 14_ژنتیک سراطان
• 15_فارماکوژنومیکس،پزشکی دقیق و درمان بیماری های ژنتیک
• 16_ناهنجاری های مادرزادی،سندرم های دیسمورفیک و ناتوانی های ذهنی
• 17_بیماری های کروموزومی
• 18_خطاهای مادرزادی متابولیسم
• 19_بیماری های تک ژنی
• 20_تشخیص پیش از تولد و ژنتیک تولیدمثل
• 21_مشاوره ژنتیکی
• 22_مسائل اخلاقی و قانونی در ژنتیک پزشکی

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

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 to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic 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 health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. 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.