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Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential d
Genetic disorders. --- Symptoms --- Child. --- Genetic Diseases, Inborn --- Diagnosis, Differential. --- Genetic Testing. --- Signs and Symptoms. --- Symptoms and Signs --- 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 --- Diagnoses, Differential --- Differential Diagnoses --- Differential Diagnosis --- Children --- Minors --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- diagnosis. --- diagnosis
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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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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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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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Prenatal Diagnosis. --- 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 --- 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 --- Genetic Services --- diagnosis --- Diagnostics prénatals --- Biologie moléculaire --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal
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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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Human genetics. --- Medicine. --- Bioethics. --- Genetic Testing. --- Bioethical Issues. --- Molecular Diagnostic Techniques. --- Biology --- Biomedical ethics --- Life sciences --- Life sciences ethics --- Science --- Health Workforce --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Moral and ethical aspects --- Bioethical Issue --- Issue, Bioethical --- Issues, Bioethical --- Euthanasia --- Human Experimentation --- Patient Rights --- Animal Experimentation --- 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 --- Molecular Diagnostic Technics --- Molecular Diagnostic Testing --- Molecular Testing --- Diagnostic Technic, Molecular --- Diagnostic Technics, Molecular --- Diagnostic Technique, Molecular --- Diagnostic Techniques, Molecular --- Diagnostic Testing, Molecular --- Molecular Diagnostic Technic --- Molecular Diagnostic Technique --- Technic, Molecular Diagnostic --- Technics, Molecular Diagnostic --- Technique, Molecular Diagnostic --- Techniques, Molecular Diagnostic --- Testing, Molecular --- Testing, Molecular Diagnostic --- Genetic Testing --- diagnosis
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Law --- General ethics --- Genoom-Project [Menselijk ] --- Génome Humain [Projet de ] --- Human Genome Project --- Menselijk Genoom-Project --- Projet de Génome Humain --- Chromosome Mapping --- Ethics, Medical. --- Genetic Testing --- Genetics, Medical. --- Public Policy. --- Human gene mapping --- -Human gene mapping --- -Human Genome Project --- #GBIB:CBMER --- Human chromosome mapping --- Human genome mapping --- Mapping, Human gene --- Gene mapping --- Migration Policy --- Population Policy --- Social Protection --- Social Policy --- Migration Policies --- Policies, Migration --- Policies, Population --- Policies, Public --- Policies, Social --- Policy, Migration --- Policy, Population --- Policy, Public --- Policy, Social --- Population Policies --- Protection, Social --- Public Policies --- Social Policies --- Policy Making --- Social Control, Formal --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Medical Ethics --- Medicine --- Professionalism --- Bioethics --- methods. --- legislation & jurisprudence. --- Law and legislation --- Moral and ethical aspects --- ethics --- United States. --- Genetic Screening --- Public Policy --- Law and legislation. --- Moral and ethical aspects. --- legislation. --- Public policy --- Ethics, Medical --- Genetics, Medical --- Medical laws and legislation --- methods --- legislation & jurisprudence --- Human Genome Project. --- HGP --- H.G.P. --- Human gene mapping - Moral and ethical aspects. --- Human gene mapping - Law and legislation. --- Affirmative Action --- Action, Affirmative --- 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 --- diagnosis
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Medical genetics --- Genetic disorders --- Public health --- Community health services --- Epidemiology --- Community health services. --- Epidemiology. --- Medical genetics. --- Public health. --- Genetics, Medical. --- Diagnosis --- Diagnosis. --- Genetic Testing --- Genetics, Medical --- Health Education --- Primary Health Care --- Primary Healthcare --- Primary Care --- Care, Primary --- Care, Primary Health --- Health Care, Primary --- Healthcare, Primary --- Education, Community Health --- Health Education, Community --- Community Health Education --- Education, Health --- Health --- Human Genetics --- Medical Genetics --- Genetics, Human --- 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 --- Community health --- Health services --- Hygiene, Public --- Hygiene, Social --- Public health services --- Public hygiene --- Sanitary affairs --- Social hygiene --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic diagnosis --- Neighborhood health centers --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- education --- diagnosis --- Genetic aspects --- Community Health Services --- Community Healthcare --- Health Services, Community --- Services, Community Health --- Community Health Care --- Care, Community Health --- Community Health Service --- Community Healthcares --- Health Care, Community --- Health Service, Community --- Healthcare, Community --- Healthcares, Community --- Service, Community Health --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Human services --- Biosecurity --- Health literacy --- Medicine, Preventive --- National health services --- Sanitation --- Human genetics --- Medical sciences --- Pathology --- Regional medical programs --- Public Health Administration --- Social Work --- Community Health Planning --- Health Sciences --- Genetics --- Genetic Testing. --- Health Education. --- Primary Health Care. --- Access to Primary Care
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This book addresses the biological, moral and legal issues which arising prenatal testing of late onset neurogenetic disease. The contributors focus specifically on Huntington's Disease, which is used as a model for other late onset neurogenetic diseases. The ethical and legal aspects of prenatal testing and preimplantation genetic diagnosis are discussed with reference to case histories. This volume will provide valuable insights for all those involved in dealing with these challenging issues.
Prenatal Diagnosis. --- Genetic Counseling --- Genetic Predisposition to Disease. --- Genetic Testing --- Heredodegenerative Disorders, Nervous System --- Neoplastic Syndromes, Hereditary --- #GBIB:CBMER --- prenatale diagnostiek (prenatale test) --- pre-implantatie genetische diagnose (PGD) --- late-onset neurogenetische aandoening --- 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 --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- 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 --- Neonatal Screening --- Genetic Services --- psychology. --- diagnostic prénatal (test prénatal, DPN) --- diagnostique génétique pré-implantatoire (DPI, diagnostic préimplantatoire) --- maladie neurogénétique tardive --- diagnosis --- genetics --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal --- psychology
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