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Medizinische Genetik.

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Abstract

Keywords

Bioethics --- Chromosome Aberrations --- Genetic Diseases, Inborn --- Genetics, Medical --- Medische genetica. --- Health Sciences --- Genetics --- Medical genetics --- Human genetics --- Génétique médicale --- Génétique humaine --- Bioéthique --- Bioethics. --- Human genetics. --- Medical genetics. --- Chromosome Aberrations. --- Genetic Diseases, Inborn. --- Genetics, Medical. --- Biology --- Biomedical ethics --- Life sciences --- Life sciences ethics --- Science --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Heredity, Human --- Human biology --- Physical anthropology --- 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 --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- Cytogenetic Analysis --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Biomedical Ethics --- Health Care Ethics --- Ethics, Biomedical --- Ethics, Health Care --- Ethics, Medical --- Ethicists --- Moral and ethical aspects --- Genetic aspects --- abnormalities --- genetica --- genetics --- geneeskunde --- medicine --- genetische stoornissen --- genetic disorders --- mens --- man --- humane ziekten --- human diseases --- Genetics (General) --- Medicine (General) --- Genetica (algemeen) --- Geneeskunde (algemeen) --- Chromosome abnormalities. --- Genetic disorders. --- Bioéthique. --- Aberrations chromosomiques. --- Maladies génétiques. --- Génétique médicale. --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Chromosomal aberrations --- Chromosome anomalies --- Karyotypes --- Mutation (Biology)


Periodical
European journal of medical genetics.
ISSN: 17697212 18780849 Publisher: Paris : Elsevier,

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Abstract

Keywords

Genetics --- Medical genetics --- Génétique médicale --- Periodicals. --- Périodiques --- Genetic Diseases, Inborn. --- Chromosome Aberrations. --- Genetics, Medical. --- Medical genetics. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- Genetics, Medical --- Cytogenetic Analysis --- 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 --- abnormalities --- Periodicals --- Health Sciences --- Pathology --- Génétique médicale --- Périodiques --- EJBIOMO EJMEDEC ELSEVIER-E EPUB-ALPHA-E EPUB-PER-FT MDGENETI --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Chromosome Aberrations --- Human genetics --- Medical sciences --- Genetic disorders --- Genetica


Periodical
PathoGenetics.
Author:
ISSN: 17558417 Year: 2008 Publisher: [London] : BioMed Central,

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Abstract

Pathogenetics is a peer-reviewed, online open access journal, which features studies on the pathogenesis of genetic diseases, phenotypes and traits. Such studies may use molecular, biochemical, cellular, and physiological methods, as well as genome-wide approaches, to provide novel insights into the biological mechanisms underlying the phenotypic manifestations of genetic diseases.

Keywords

Genetic Diseases, Inborn --- Genetic Diseases, X-Linked --- Genetic Predisposition to Disease --- Genetic disorders --- Medical genetics --- Maladies héréditaires --- Génétique médicale --- Periodicals --- Pathogenesis --- Susceptibility --- Périodiques --- Pathogenèse --- Prédisposition --- Genetic Diseases, Inborn. --- Genetic Diseases, X-Linked. --- Genetic Predisposition to Disease. --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Diseases, X-Chromosome Linked --- X-Linked Genetic Diseases --- Disease, X-Linked Genetic --- Diseases, X-Linked Genetic --- Genetic Disease, X-Linked --- Genetic Diseases, X Chromosome Linked --- Genetic Diseases, X Linked --- X Linked Genetic Diseases --- X-Linked Genetic 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 --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- genetics --- Genetic disorders. --- Medical genetics. --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Chromosomes, Human, X --- Genes, X-Linked --- Genetics, Medical --- Diseases --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic aspects


Book
Medical genetics at a glance
Authors: ---
ISBN: 9780470656549 0470656549 111868902X 9781118689004 9781118689011 9781118689028 1118689003 1118689011 Year: 2013 Publisher: Chichester, England : Wiley-Blackwell,

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"This book covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course."--Publisher.

Keywords

Genetic Diseases, Inborn. --- Chromosome Aberrations. --- Genetics, Medical. --- Medical genetics. --- Developmental biology. --- Génétique médicale --- Biologie du développement --- Medical genetics --- Developmental biology --- Genetic Diseases, Inborn --- Chromosome Aberrations --- Genetics, Medical --- Genetic Testing --- 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 --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- 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 --- Development (Biology) --- Biology --- Growth --- Ontogeny --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- diagnosis --- abnormalities --- Genetic aspects --- medische genetica --- aangeboren afwijkingen --- Genetic disorders. --- Chromosome abnormalities. --- Genetic screening.


Periodical
Journal of inherited metabolic disease.
Author:
ISSN: 01418955 15732665 Year: 1978 Publisher: [Dordrecht] : Dordrecht : Kluwer Academic Publishers Springer

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The JIMD is the official journal of the Society for the Study of Inborn Errors of Metabolism, SSIEM. By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society's annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field, and non-peer-reviewed material that aims to be important, controversial, interesting or entertaining.

Keywords

Pathology of the metabolism --- Human genetics --- Paediatrics --- Metabolism, Inborn errors of --- Maladies héréditaires métaboliques --- Periodicals --- Périodiques --- Metabolism. --- Metabolism, Inborn Errors. --- Genetic Diseases, Inborn. --- Metabolic Diseases. --- Societies, Scientific. --- Health. --- Health --- Metabolism --- Chemistry --- Biochemistry --- General and Others --- Genetics --- Immunology --- Health Sciences --- Life Sciences --- Clinical Medicine --- Chemistry. --- Immunology. --- Health Sciences. --- Life Sciences. --- Metabolism Errors, Inborn --- Inborn Errors of Metabolism --- Error, Inborn Metabolism --- Errors Metabolism, Inborn --- Errors Metabolisms, Inborn --- Errors, Inborn Metabolism --- Inborn Errors Metabolism --- Inborn Errors Metabolisms --- Inborn Metabolism Error --- Inborn Metabolism Errors --- Metabolism Error, Inborn --- Metabolism Inborn Error --- Metabolism Inborn Errors --- Metabolisms, Inborn Errors --- Metabolic Diseases --- congenital --- Pediatrie --- Menselijke genetica --- Pathologie van het metabolisme --- Metabolism, Inborn Errors --- Metabolism, Inborn errors of. --- Genetic disorders. --- Science --- Genetic Diseases, Inborn --- Societies, Scientific --- Maladies métaboliques congénitales --- Métabolisme. --- Maladies métaboliques congénitales. --- Maladies génétiques. --- Troubles du métabolisme. --- Sciences --- metabolism (biological concept) --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- American Psychological Association --- Scientific Societies --- Scientific Society --- Society, Scientific --- Diseases, Metabolic --- Thesaurismosis --- Disease, Metabolic --- Metabolic Disease --- Thesaurismoses --- 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 --- Metabolic Phenomenon --- Metabolic Process --- Metabolism Concepts --- Metabolism Phenomena --- Process, Metabolic --- Processes, Metabolic --- Anabolism --- Catabolism --- Metabolic Concepts --- Metabolic Phenomena --- Metabolic Processes --- Concept, Metabolic --- Concept, Metabolism --- Concepts, Metabolic --- Concepts, Metabolism --- Metabolic Concept --- Metabolism Concept --- Phenomena, Metabolic --- Phenomena, Metabolism --- Phenomenon, Metabolic --- Scientific societies --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics --- Metabolism, Primary --- Primary metabolism --- Physiology --- Disorders. --- Societies, etc. --- Associations. --- Disorders

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