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Hereditary Diseases --- Genetic Diseases, Inborn --- Genetic counseling --- genetics --- Genetic counseling. --- Erfelijkheidsleer --- Counseling --- Genetic Diseases, Inborn - genetics --- Conseil génétique. --- Maladies héréditaires.
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Progress in the molecular analysis of human genetic disease has been very rapid over the last three years since the first edition of this book was published. Most of the genes involved in the more common monogenic disorders have been identified and many of the rarer disorders have now been mapped to chromosomal regions. This thoroughly updated edition discusses these developments in detail. The techniques available for gene mapping have changed substantially thus facilitating isolation of disease genes from their chromosomal positions. Animal models are being created to allow the detailed study of disease processes. The second edition fully covers these advancements and should be a valuable reference for students, clinicians, and researchers in the biological sciences.
Chromosome mapping --- Genetic disorders --- Chromosome Mapping --- Genetic Diseases, Inborn --- Genetic Markers --- genetics --- etiology --- Chromosome mapping. --- Genetic disorders. --- Molecular genetics. --- Chromosome Mapping. --- Genetic Markers. --- Hereditary Diseases --- genetics. --- Genetics. --- Genetic Diseases, Inborn - genetics --- Genetic Diseases, Inborn - etiology
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"Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet '...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal Medicine Universally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders. Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis. Key features: - Fully updated to provide the very latest information when in a busy consulting room or clinic - Clear and authoritative advice applicable to everyday clinical practice - Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technology The eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff"--
Genetic Counseling --- Genetic Techniques --- Genetic Diseases, Inborn --- Maladies héréditaires --- Génétique médicale --- Dépistage génétique --- methods --- genetics --- Aspect génétique. --- Méthodologie. --- Erfelijkheidsleer --- Counseling --- Genetic diseases, inborn, genetics --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetics --- Genetic Phenomena --- Genetic Techniques.
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moleculaire biologie --- Molecular biology --- Genetic Diseases, Inborn --- Neoplasms --- Molecular Biology --- Medical genetics --- Genetic disorders --- genetics --- Molecular Biology. --- Biochemical Genetics --- Biology, Molecular --- Genetics, Biochemical --- Genetics, Molecular --- Molecular Genetics --- Biochemical Genetic --- Genetic, Biochemical --- Genetic, Molecular --- Molecular Genetic --- Genetic Phenomena --- genetics. --- Genetic disorders. --- Medical genetics. --- Molecular genetics. --- Genetics, Biochemical. --- Hereditary Diseases --- Molecular genetics --- Genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Genetic aspects --- Genetics. --- Genetic Diseases, Inborn - genetics --- Neoplasms - genetics
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The application of new gene technology has made the study of inherited diseases at the molecular level one of today's fastest moving research areas. This textbook reviews the latest breakthroughs and concentrates on the different types of mutation and their analysis by both classical methods and the newest DNA mapping techniques. Students will find here the information they need to complement lecture courses.
Human genetics --- Molecular biology --- Human gene mapping --- Genetic disorders --- Genetic Diseases, Inborn --- Genetic Markers --- Chromosome Mapping --- genetics --- etiology --- Chromosome Mapping. --- Genetic Markers. --- 577.27 --- Molecular genetics --- #ABIB:aimm --- Genetics --- Human chromosome mapping --- Human genome mapping --- Mapping, Human gene --- Gene mapping --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Genetic Marker --- Marker, Genetic --- Chromosome Markers --- DNA Markers --- Markers, DNA --- Markers, Genetic --- Chromosome Marker --- DNA Marker --- Marker, Chromosome --- Marker, DNA --- Markers, Chromosome --- Random Amplified Polymorphic DNA Technique --- Genome Mapping --- Gene Mapping --- Linkage Mapping --- Chromosome Mappings --- Gene Mappings --- Genome Mappings --- Linkage Mappings --- Mapping, Chromosome --- Mapping, Gene --- Mapping, Genome --- Mapping, Linkage --- Mappings, Chromosome --- Mappings, Gene --- Mappings, Genome --- Mappings, Linkage --- Cytogenetics --- Cytogenetic Analysis --- Gene Order --- Synteny --- etiology. --- genetics. --- Molecular bases of immunity. Molecular immunology --- Genetic disorders. --- Human gene mapping. --- Molecular genetics. --- Genetic Marker. --- Hereditary Diseases --- 577.27 Molecular bases of immunity. Molecular immunology --- Etiology. --- Genetic Diseases, Inborn - genetics --- Genetic Diseases, Inborn - etiology
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