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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.
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
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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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Genetics, Medical. --- Genetic Diseases, Inborn. --- Medical genetics --- Génétique médicale --- Periodicals. --- Périodiques --- Medical genetics. --- 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 --- GenomeVariation --- Gene Mutation --- Rare diseases --- disease-associated genes --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetics, Medical --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- genomevariation --- gene mutation --- rare diseases --- Evolution. Phylogeny --- Genetics --- Genoma humà. --- Revistes electròniques. --- Revistes digitals --- Revistes en línia --- Revistes on line --- Revistes per Internet --- Publicacions electròniques --- Revistes --- Genomes --- Cromosomes humans --- Genètica humana
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Human genetics --- Medical genetics --- Génétique médicale --- Periodicals. --- Périodiques --- Medical genetics. --- Génétique médicale. --- 44.48 medical genetics --- Genetics, Medical. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Periodicals --- Health Sciences --- Life Sciences --- Genetics --- Pathology --- Biology --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Medical sciences --- Genetic disorders --- Genetics, Medical
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Human genetics --- Genetics, Medical. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Periodicals --- Medical genetics --- Medical genetics. --- Génétique médicale. --- 44.48 medical genetics --- Life Sciences --- Genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Medical sciences --- Pathology --- Genetic disorders --- 44.48 medical genetics. --- Genetics, Medical
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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
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Medical genetics --- Génétique médicale --- Periodicals. --- Périodiques --- Internal medicine --- Genetics, Medical. --- Internal medicine. --- Medical genetics. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Clinical genetics --- Diseases --- Heredity of disease --- Medicine, Internal --- Genetic aspects --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Medicine
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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.
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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Human genetics --- Genetics, Medical. --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Periodicals --- Neuropsychiatry --- Medical genetics --- Nervous System Diseases --- Medical genetics. --- Neuropsychiatry. --- Neuropsychiatrie. --- Génétique médicale. --- 44.48 medical genetics --- genetics. --- Health Sciences --- Life Sciences --- Clinical Medicine --- Neurology --- Psychiatry & Psychology --- Genetics --- Behavioral neurology --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Biological psychiatry --- Medical sciences --- Pathology --- Genetic disorders --- Genetics, Medical
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Human genetics --- Genomics --- Genomes --- Génomique --- Génomes --- Periodicals --- Périodiques --- Medical genetics --- Genomics. --- Genetics, Medical. --- Medical genetics. --- Genetics & Genomics. --- Clinical genetics --- Diseases --- Heredity of disease --- Genome research --- Human Genetics --- Medical Genetics --- Genetics, Human --- Genetic aspects --- Research --- functional genomics --- epigenomics --- proteomics --- pharmacogenomics --- Medical sciences --- Pathology --- Genetic disorders --- Molecular genetics --- Human Genome Project --- Genome --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Comparative Genomics --- Comparative Genomic --- Genomic, Comparative --- Genomics, Comparative --- Genetics --- genomics
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