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Genetic disorders. --- Genetic disorders in children. --- Syndromes in children. --- Genetic disorders --- Genetic disorders in children --- Noonan Syndrome --- Comorbidity. --- Child. --- Infant. --- Treatment. --- diagnosis. --- therapy.
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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 detailed coverage in 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. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. 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 the health professionals and researchers"--Publisher's description.
Medical genetics. --- Genetics, Medical. --- Genetic Diseases, Inborn. --- Genomics. --- Medical genetics --- Genetics, Medical --- Genetic Diseases, Inborn --- Genomics --- Comparative Genomics --- Comparative Genomic --- Genomic, Comparative --- Genomics, Comparative --- Human Genome Project --- Genome --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects --- Genome research --- Genomes --- Molecular genetics --- Research --- Genetic disorders. --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Blood --- Kidneys --- Immunologic diseases --- Genetic aspects.
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Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research. -- Publisher.
Epigenetics. --- Genetic regulation. --- Epigenesis, Genetic. --- Genetic Diseases, Inborn. --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetics, Medical --- Epigenetic Process --- Epigenetics Processes --- Epigenetic Processes --- Genetic Epigenesis --- Process, Epigenetic --- Processes, Epigenetic --- Processes, Epigenetics --- Epigenome --- DNA Methylation --- Gene expression --- Gene expression regulation --- Gene regulation --- Biosynthesis --- Cellular control mechanisms --- Molecular genetics --- Genetics --- Regulation --- Genetic disorders. --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics
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Veterinary genetics. --- Veterinary microbiology. --- Animal genetics. --- Animal biotechnology. --- Fisheries. --- Animal genetics --- Medical genetics --- Genetic disorders in animals --- Coastal fisheries --- Commercial fisheries --- Commercial fishing industry --- Farms, Fish --- Fish farms --- Fishery industry --- Fishery methods --- Fishing industry --- Freshwater fisheries --- Inland fisheries --- Large-scale fisheries --- Marine fisheries --- Marine recreational fisheries --- Recreational fisheries --- Sea fisheries --- Sea fishing industry --- Sport fisheries --- Aquaculture --- Wildlife utilization --- Fishery sciences --- Fishes --- Animals --- Domestic animals --- Livestock --- Livestock biotechnology --- Agricultural biotechnology --- Genetics --- Agricultural microbiology --- Medical microbiology --- Communicable diseases in animals --- Biotechnology
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Sports, Exercise, and Nutritional Genomics: Current Status and Future Directions is the first reference volume to offer a holistic examination of omics-driven advances across different aspects of exercise and sports physiology, biochemistry, sports medicine, psychology, anthropology, and sports nutrition; and highlighting the opportunities towards advance personalized training and athlete health management. More than 70 international experts from 14 countries have discussed key exercise and sport-related themes through the prism of genomics, epigenomics, transcriptomics, proteomics, metabolomics, telomere biology, talent in sport, individual differences in response to regular physical activity, that in the future may empower coaches, sports physicians, fitness experts, genetic counselors, and translational scientists to employ various omics data and approaches in improving health and physical performance of people participating in sports and exercise activities. Contributors address current knowledge of genetic influence on athletic performance, individual responses to exercise training, as well as the genetics of musculoskeletal phenotypes, exercise-related injuries, flexibility, and neurodegenerative disorders in athletes. Finally, performance-related and psychological traits associated with epigenetic, transcriptomic and metagenomic biomarkers are also considered, along with nutritional and pharmacogenomic aids in sports medicine and personalized nutrition.
Genetics --- Human genetics --- Human medicine --- Recreation. Games. Sports. Corp. expression --- Sports medicine. --- Medical genetics. --- Sports Medicine. --- Genetics, Medical. --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Athletic medicine --- Athletics --- Medicine and sports --- Physical education and training --- Sports --- Medicine --- Sports sciences --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Medicine, Sport --- Medicine, Sports --- Sport Medicine --- Psychology, Sports --- Physical Conditioning, Human --- Medical aspects --- Genetic aspects
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Communicable diseases. --- Communicable diseases --- Medical genetics. --- Genomics. --- Communicable Diseases. --- Precision Medicine. --- Genetics, Medical. --- Genetic aspects. --- Communicable Diseases --- Inflammation --- Genetic Techniques --- Precision Medicine --- Genomics --- genetics --- methods --- Comparative Genomics --- Comparative Genomic --- Genomic, Comparative --- Genomics, Comparative --- Human Genome Project --- Genome --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetics --- Genetic Counseling --- Genetic Phenomena --- Innate Inflammatory Response --- Inflammations --- Inflammatory Response, Innate --- Innate Inflammatory Responses --- Immunity, Innate --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- P Health --- P-Health --- Personalized Medicine --- Individualized Medicine --- Medicine, Individualized --- Medicine, Personalized --- Medicine, Precision --- P-Healths --- Pharmacogenomic Variants --- Pharmacogenetics --- Patient-Specific Modeling --- Infectious Diseases --- Communicable Disease --- Disease, Communicable --- Disease, Infectious --- Diseases, Communicable --- Diseases, Infectious --- Infectious Disease --- Disease Outbreaks --- Disease Transmission, Infectious --- Genome research --- Genomes --- Molecular genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Contagion and contagious diseases --- Contagious diseases --- Infectious diseases --- Microbial diseases in human beings --- Zymotic diseases --- Infection --- Epidemics --- Research --- Genetic aspects --- Theranostics --- Predictive Medicine --- Medicine, Predictive --- Theranostic
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