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Signs and symptoms of genetic conditions : a handbook
Authors: ---
ISBN: 0199353077 0199388695 9780199388691 9781306731331 130673133X 019993097X 9780199930975 Year: 2014 Publisher: New York, New York : Oxford University Press,

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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 screening from newborns to DNA typing
Authors: ---
ISBN: 0444812032 Year: 1990 Volume: vol 901 Publisher: Amsterdam : Excerpta medica,

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Periodical
Genomic medicine.
ISSN: 18717942 18717934 Year: 2007 Publisher: Netherlands : Springer,

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Book
Diagnostics prénatals et biologie moléculaire
Authors: ---
ISBN: 2743001518 9782743001513 Year: 1997 Publisher: Paris: Cachan (France, 94234): Tec & Doc-Lavoisier, Editions médicales internationales,

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Book
Noninvasive prenatal testing (NIPT)
Authors: ---
ISBN: 0128141905 0128141891 9780128141908 9780128141892 Year: 2018 Publisher: London, UK

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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.

Keywords

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

Gene mapping : using law and ethics as guides
Authors: ---
ISBN: 0195073037 Year: 1992 Publisher: New York Oxford Oxford University Press

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Keywords

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


Periodical
Genescreen : an international journal of medical genomics.
ISSN: 1466920X 14669218 Year: 2000 Publisher: [Oxford, England] : Blackwell Science,

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Keywords

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 --- Génétique médicale --- Génomique

Prenatal testing for late-onset neurogenetic diseases
Authors: --- ---
ISBN: 1859960197 Year: 2002 Publisher: London : BIOS,

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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.

Keywords

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


Book
Genetic testing : patient's rights, insurance and employment. A survey of regulations in the European Union
Authors: --- ---
ISBN: 9289442174 Year: 2002 Publisher: Luxembourg : Office for official publications of the European Communities,

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Keywords

Genetic Testing --- Bioethical Issues. --- Genetic Privacy --- Informed Consent. --- Insurance, Health. --- Confidentiality. --- Employment --- Academic collection --- #GBIB:CBMER --- 06.04.d --- Confidential Information --- Secrecy --- Patient Data Privacy --- Privacy of Patient Data --- Privileged Communication --- Communication, Privileged --- Communications, Privileged --- Data Privacy, Patient --- Information, Confidential --- Privacy, Patient Data --- Privileged Communications --- Duty to Warn --- Privacy --- Disclosure --- Anonymous Testing --- Parental Notification --- Consent, Informed --- Treatment Refusal --- Mental Competency --- Therapeutic Misconception --- Bioethical Issue --- Issue, Bioethical --- Issues, Bioethical --- Euthanasia --- Human Experimentation --- Patient Rights --- Animal Experimentation --- Group Health Insurance --- Health Insurance --- Health Insurance, Voluntary --- Health Insurance, Group --- Insurance, Group Health --- Insurance, Voluntary Health --- Voluntary Health Insurance --- legislation & jurisprudence. --- standards. --- Levensverzekering ; Extra risico --- Bioethical Issues --- Informed Consent --- Insurance, Health --- Confidentiality --- legislation & jurisprudence --- standards --- 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 --- diagnosis


Book
Molecular Diagnostics : 12 Tests That Changed Everything
Author:
ISBN: 1461481260 1461481279 Year: 2014 Publisher: New York, NY : Springer New York : Imprint: Humana,

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Molecular Diagnostics: 12 Tests That Changed Everything focuses on specific laboratory tests and emphasizes how the availability of these tests has altered how clinicians treat their patients.  Presented as a standard outline, each chapter focuses on a specific molecular test  and provides background on the test and its clinical applications. Continuing with some discussion on how the test is done, interpreted, and used clinically, each chapter then concludes with a discussion of how that test has changed the way medicine is practiced with respect to the disease or condition in question. Authored by renowned experts in the field, Molecular Diagnostics: 12 Tests That Changed Everything is a valuable resource for pathologists, pathology residents, laboratory directors, development personnel, lab medicine fellows and those working in the broad area of oncology, infectious disease and genetics.

Keywords

Evidence-based medicine. --- Molecular diagnosis. --- Molecular diagnosis --- Clinical Laboratory Techniques --- Diagnostic Techniques and Procedures --- Investigative Techniques --- Diagnosis --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Genetic Testing --- Molecular Diagnostic Techniques --- Medicine --- Health & Biological Sciences --- Pathology --- Molecular Diagnostic Technics --- Molecular Diagnostic 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 Diagnostic --- 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 --- Antemortem Diagnosis --- Diagnoses and Examinations --- Examinations and Diagnoses --- Postmortem Diagnosis --- Antemortem Diagnoses --- Diagnoses --- Diagnoses, Antemortem --- Diagnoses, Postmortem --- Diagnosis, Antemortem --- Diagnosis, Postmortem --- Postmortem Diagnoses --- Disease --- Investigative Technics --- Investigative Technic --- Investigative Technique --- Technic, Investigative --- Technics, Investigative --- Technique, Investigative --- Techniques, Investigative --- Diagnostic Technics and Procedures --- Technics and Procedures, Diagnostic --- Techniques and Procedures, Diagnostic --- Diagnoses and Laboratory Examinations --- Diagnosis, Laboratory --- Laboratory Diagnosis --- Laboratory Examinations and Diagnoses --- Laboratory Techniques, Clinical --- Clinical Laboratory Technique --- Diagnoses, Laboratory --- Laboratory Diagnoses --- Laboratory Technique, Clinical --- Technique, Clinical Laboratory --- Techniques, Clinical Laboratory --- Molecular diagnostics --- diagnosis --- methods --- Molecular aspects --- Medicine. --- Infectious diseases. --- Oncology. --- Pathology. --- Medicine & Public Health. --- Infectious Diseases. --- Oncology  . --- Emerging infectious diseases. --- Disease (Pathology) --- Medical sciences --- Diseases --- Medicine, Preventive --- Emerging infections --- New infectious diseases --- Re-emerging infectious diseases --- Reemerging infectious diseases --- Communicable diseases --- Tumors

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