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"The Sociology of Medical Screening: Critical Perspectives, New Directions presents a series of readings that provide an up-to-date overview of the diverse sociological issues relating to population-based medical screening. Features new research data in most of the contributions. Includes contributions from eminent sociologists such as David Armstrong, Stefan Timmermans, and Alison Pilnick. Represents one of the only collections to specifically address the sociology of medical screening"--Provided by publisher.
Mass Screening --- Genetic Testing --- Sociology, Medical --- Mass Screening. --- Genetic Testing. --- Sociology, Medical. --- #SBIB:316.334.3M50 --- #SBIB:316.334.3M51 --- Genetic diagnosis --- Genetic testing --- Organisatie van de gezondheidszorg: algemeen, beleid --- Organisatie van de gezondheidszorg: modellen van therapeutisch handelen
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Thromboembolism --- Human chromosome abnormalities --- Venous Thromboembolism. --- Factor V --- Genetic Testing. --- Predictive Value of Tests. --- Diagnosis --- genetics.
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Genetic screening --- Ovarian Neoplasms --- Ovarian Neoplasms --- Genetic Testing --- Genomics --- Models, Genetic. --- diagnosis. --- genetics. --- methods. --- methods.
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"Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field"--Provided by publisher.
Genetic Diseases, Inborn --- Genetic Testing. --- Nervous System Diseases --- Nervous system --- Neurogenetics. --- etiology. --- genetics. --- Diseases --- Genetic aspects.
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Genetic Testing. --- DNA --- Infant, Newborn. --- -Infants (Newborn) --- -Genetic screening --- -#GBIB:CBMER --- Human chromosome abnormalities --- Medical screening --- Infants (Newborn) --- Neonates --- Newborns (Infants) --- Infants --- Neonatology --- Deoxyribonucleic acid --- Desoxyribonucleic acid --- Thymonucleic acid --- TNA (Nucleic acid) --- Deoxyribose --- Nucleic acids --- Genes --- Genetic Screening --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Genetic Predisposition to Disease --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Newborns --- Neonate --- Infants, Newborn --- Newborn --- Newborn Infant --- Newborn Infants --- analysis. --- Analysis --- -Congresses --- Abnormalities --- -Diagnosis --- Congresses --- Diagnosis --- diagnosis --- Genetic screening --- Newborn infants --- Infant, Newborn --- analysis --- congresses. --- Dna --- Infant, newborn --- Congresses. --- Genetic Testing --- #GBIB:CBMER
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In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Genetic disorders --- Human chromosome abnormalities --- Molecular diagnosis --- Diagnosis. --- Genetic diagnosis --- Genetic testing --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Human genetics. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology
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Medical genetics --- Genomics --- Genetic Testing --- Genetic Screening. --- Genomics. --- Medical genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Genome research --- Genomes --- Genetic Screening --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Genetic Predisposition to Disease --- Genetic aspects --- Research --- diagnosis --- Genetic Testing. --- Human Genome Project --- Genome --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Molecular genetics --- Comparative Genomics --- Comparative Genomic --- Genomic, Comparative --- Genomics, Comparative --- Life Sciences --- Biology --- Genetics --- genomics. --- genomic analysis --- genetics --- ecological genetics --- genome mining --- glycomics --- metagenomics --- mitogenomics --- structural genomics --- bioinformatics --- genetic rescue --- genome --- metabolomics --- multiomics --- nutrigenomics --- proteomics --- transcriptomics
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Breast --- HER-2 gene --- Breast --- Genes, erbB-2 --- Neoplasms --- Antibodies, Monoclonal --- Antineoplastic Agents --- Genetic Testing --- Neoplasms --- Cancer --- Cancer --- Gene therapy --- genetics. --- genetics. --- therapeutic use. --- therapeutic use. --- methods. --- drug therapy.
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"Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation"--Publisher's description.
Prenatal diagnosis. --- Diagnosis, Noninvasive. --- Genetic Testing. --- Prenatal Diagnosis. --- DNA --- blood. --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Genetic Screening --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Genetic Predisposition to Disease --- Prenatal Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Diagnostic tests, Noninvasive --- Noninvasive diagnosis --- Noninvasive diagnostic tests --- Function tests (Medicine) --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- diagnosis --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal
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Surgeons need to know about genetics and how it interacts with modern surgical practice. Inherited diseases contribute to a substantial proportion of the surgical workload. Recognition of a positive history of disease in a family will allow genetic testing and precise diagnosis, leading to the ability to presymptomatically screen at-risk members of a family and allow screening and prevention strategies to be implemented.
Genetic Counseling. --- Genetic Predisposition to Disease. --- Genetic screening. --- Neoplasms. --- RD520-599.5. --- RD651-678. --- RJ47.3-47.4. --- Genetic Counseling --- Neoplasms --- Genetic Testing --- Genetic Predisposition to Disease --- Diagnostic Services --- Genetic Services --- Genetics, Medical --- Genotype --- Diseases --- Genetic Techniques --- Disease Susceptibility --- Diagnostic Techniques and Procedures --- Diagnosis --- Preventive Health Services --- Health Services --- Genetics --- Genetic Phenomena --- Investigative Techniques --- Disease Attributes --- Community Health Services --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Health Care Facilities, Manpower, and Services --- Phenomena and Processes --- Pathologic Processes --- Biology --- Biological Science Disciplines --- Health Care --- Pathological Conditions, Signs and Symptoms --- Natural Science Disciplines --- Disciplines and Occupations --- Health & Biological Sciences --- Genetic Testing. --- genetics. --- surgery.
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