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erfelijkheid --- genetica --- Human genetics --- fragiele-x-syndroom --- erfelijke ziekten --- Intellectual Disability --- Genetic Diseases, Inborn --- X Chromosome --- Sex Chromosome Disorders --- X-linked mental retardation --- genetics --- X-linked mental retardation.
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This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics: the societal implications of technologies: the Human Genome Project; cloning, genetic enhancement, and embryonic stem cell research: new tumor suppressor genes and oncogenes and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitates review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes, coverage of ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features.
Human genetics --- moleculaire biologie --- Molecular biology --- medische genetica --- Genetic Diseases, Inborn --- Genetics, Medical. --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- genetics. --- Medical genetics. --- Hereditary Diseases --- stamcellen --- klonen --- tumoren --- Genetics, Medical --- genetics --- Hereditary Diseases - genetics.
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This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed.; X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
X-linked mental retardation --- Sex Chromosome Disorders --- X Chromosome --- Genetic Diseases, Inborn --- Sex Chromosomes --- Chromosome Disorders --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Chromosomes --- Diseases --- Congenital Abnormalities --- Cellular Structures --- Genetic Structures --- Genetic Phenomena --- Cells --- Anatomy --- X-linked Intellectual disability
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Human genetics --- Medical genetics --- Genetics, Medical --- Genetic Diseases, Inborn --- Génétique médicale --- Periodicals --- Périodiques --- Genetics, Medical. --- Genetic Diseases, Inborn. --- Medical genetics. --- Genetics & Genomics. --- Clinical genetics --- Diseases --- Heredity of disease --- 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 --- Human Genetics --- Medical Genetics --- Genetics, Human --- Genetic aspects --- medical genetics --- Medical sciences --- Pathology --- Genetic disorders --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Genetics
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Genomics --- Human genetics --- Gene mapping --- Genomes --- Genetique humaine --- Cartes chromosomiques --- Genome --- Chromosome Mapping --- Genetics, Medical --- Genetics --- 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 --- Human Genetics --- Medical Genetics --- Genetics, Human --- Cytogenetics --- Genetic Markers --- Cytogenetic Analysis --- Gene Order --- Synteny --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Genes --- Proteome --- Genome. --- Genetics, Medical. --- Chromosome Mapping.
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Het genetische onderzoek dat wetenschappelijke vorsers uitvoeren, is niet langer een zaak voor het laboratorium maar hoort thuis in het hart van onze maatschappij. Genetische technologie wordt gebruikt bij gerechtelijk onderzoek en als bewijs van historische vooronderstellingen. Bovendien wil de mens ook een keuze maken in de bepaling van zijn biologische oorsprong. Kinderen op maat gemaakt lijken plots niet meer veraf. Ingrepen in onze genetica hebben evenwel ook hun invloed op verzekerbaarheid, tewerkstelling en de privé-sfeer in het algemeen. De cruciale vraag dringt zich dan ook op of genetische testen leed voorkomen dan wel dat leed eerder veroorzaken. In hun boek Adam en Eva en andere verhalen over genetica schetsen David en Jean-Jacques Cassiman een duidelijk beeld van de Menselijke Erfelijkheid aan het begin van een nieuwe eeuw. Op een uiterst toegankelijke en intrigerende manier maken zij een balans op en plaatsen ze de feiten tegenover de emoties.
Human genetics --- Erfelijkheidsleer --- Hérédité --- Genetics, Medical. --- #GBIB:CBMER --- Academic collection --- 372.857.5 --- genetica (genen) --- gentherapie --- 600.2 --- DNA --- antropologie --- biologie --- erfelijkheidsleer --- exacte wetenschappen --- genetische manipulatie --- Ethiek (moraal, zedenleer) --- Genetica (erfelijke afwijkingen, erfelijke ziekten, erfelijkheid, erfelijkheidsleer, erfelijkheidsonderzoek, genetische aandoeningen) --- In-vitrofertilisatie --- Moraal (censuur) --- Erfelijkheid (genetica) --- Medische ethiek --- genetica --- Ethiek --- Genetische manipulatie --- genetisch risico --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- génétique (gènes) --- thérapie génique --- 61 --- Genetics, Medical --- DNA analysis --- Deoxypentose Nucleic Acid DNA --- Cloning --- Human genome project --- Genetics. --- Nature. --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Genetic engineering --- Reproduction, Asexual --- Monograph
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Genetics, Medical. --- Problem-Based Learning. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Human genetics --- Medical genetics --- Basic Sciences. Genetics --- Genetics (General) --- Genetics (General). --- Genetics, Medical --- Problem-Based Learning --- Problem-Based Curricula --- Active Learning --- Curriculum, Problem-Based --- Experiential Learning --- Curricula, Problem-Based --- Curriculum, Problem Based --- Learning, Active --- Learning, Experiential --- Learning, Problem-Based --- Problem Based Curricula --- Problem Based Learning --- Problem-Based Curriculum --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Genetic aspects
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Genetics --- Genetics, Medical --- Genetic Predisposition to Disease --- Genetic Screening --- Genome --- Medical genetics --- Genomics --- Génétique médicale --- Génomique --- Periodicals. --- Périodiques --- Genomes --- Human genome --- Genetics, Medical. --- Genome. --- Genetic Testing. --- Genetic Predisposition to Disease. --- Genomes. --- Human genome. --- Medical genetics. --- Chemistry --- Health Sciences --- Life Sciences --- Biochemistry --- Pathology --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- 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 --- Human Genetics --- Medical Genetics --- Genetics, Human --- genetics --- diagnosis --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Genes --- Proteome --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Human chromosomes --- Haploidy --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Genetic disorders --- Genetic aspects
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