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Genetic Counseling --- Genetic counseling --- Genetic Counseling. --- Genetic counseling. --- 44.48 medical genetics --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Health counseling --- Eugenics --- Prenatal Diagnosis --- Directive Counseling
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Prenatal diagnosis. --- Genetic counseling. --- Health counseling --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- Prenatal Diagnosis --- Genetic Counseling --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Eugenics --- Directive Counseling --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Fetal --- Screening, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services
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Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine.
Gene mapping. --- Whole Genome Sequencing --- Precision Medicine --- ethics. --- psychology. --- Chromosome mapping --- Genetic mapping --- Genome mapping --- Linkage mapping (Genetics) --- Mapping, Gene --- Genetics --- Technique --- Nucleotide sequence --- Human gene mapping --- Genetic counseling --- Genetic Counseling --- Genetic Testing --- Base Sequence --- Moral and ethical aspects. --- Psychological aspects. --- psychology
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"Hereditary Peripheral Neuropathies" deals with the Charcot-Marie-Tooth group of neuropathies and related primary hereditary neuropathies. The knowledge in this field has grown exponentially during the last ten years. The book is divided into two sections. The first section deals with the clinical presentation, electrophysiological features and differential diagnosis of these disorders as well as with the general biology of the peripheral nerve. The second section gives a detailed account of the known disease entities. The book will be interesting for both the clinician with a special interest in PNS diseases as well as for the researcher.
Genetic counseling. --- Nerves, Peripheral --- Diseases. --- Peripheral neuropathies --- Health counseling --- Neurology. --- Human genetics. --- Pediatrics. --- Orthopedics. --- Human Genetics. --- Orthopaedics --- Orthopedia --- Surgery --- Paediatrics --- Pediatric medicine --- Medicine --- Children --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Nervous system --- Neuropsychiatry --- Diseases --- Health and hygiene --- Neurology .
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Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use. Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malformation syndrom es and better evaluate, counsel, and manage affected patients.
Medicine. --- Neurology. --- Pathology. --- Pediatrics. --- Medicine & Public Health. --- Paediatrics --- Pediatric medicine --- Medicine --- Children --- Disease (Pathology) --- Medical sciences --- Diseases --- Medicine, Preventive --- Nervous system --- Neuropsychiatry --- Health and hygiene --- Genetic disorders --- Genetic counseling --- Diagnosis --- Neurology .
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Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Also available in a CD-ROM edition (ISBN: 1-58829-974-5). Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.
Genetic disorders --- Genetic counseling --- Diagnosis --- Health counseling --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Pathology. --- Medicine. --- Molecular Medicine. --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Disease (Pathology) --- Medicine --- Medicine, Preventive --- Health Workforce --- Molecular biology. --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology
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Genetics --- Genetic Techniques --- Génétique --- Periodicals --- Technique --- Périodiques --- Genetic Techniques. --- Genetics. --- Genetics & Genomics. --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- methods --- genetics --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Genetic Structures --- Genetic Phenomena --- Genetic Counseling
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Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.
Medicine. --- Human genetics. --- Molecular biology. --- Biomedicine. --- Human Genetics. --- Molecular Medicine. --- Human genetics --- History. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Clinical sciences --- Medical profession --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Genetics, Medical --- Genomics --- Chromosome Mapping --- Genetic Counseling --- history. --- Health Workforce
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Molecular genetics. --- Genetic Phenomena --- Genetic Techniques. --- Genomics. --- Biological Evolution. --- Molecular Medicine. --- genetics. --- Medicine, Molecular --- Medicines, Molecular --- Molecular Medicines --- Genetics, Medical --- Evolution, Biological --- Sociobiology --- Comparative Genomics --- Comparative Genomic --- Genomic, Comparative --- Genomics, Comparative --- Human Genome Project --- Genome --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetics --- Genetic Counseling --- Molecular biology --- methods
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"Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers"--Publisher's description.
Prenatal diagnosis. --- Genetic counseling. --- Fetus --- Cytogenetics --- Congenital Abnormalities. --- Fetal Diseases --- Genetic Testing --- Genetics, Medical. --- Prenatal Diagnosis. --- Genetic Counseling. --- Perinatology --- Female. --- Pregnancy. --- Abnormalities --- Genetic aspects. --- therapy. --- methods. --- genetics. --- Gestation --- Pregnancies --- Litter Size --- Maternal-Fetal Relations --- Pregnant Women --- Females --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Eugenics --- Prenatal Diagnosis --- Directive Counseling --- 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 --- Preimplantation Diagnosis --- Genetic Services --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Deformities --- Abnormality, Congenital --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Defects, Birth --- Deformity --- Infant, Newborn, Diseases --- Teratogenesis --- Cytogenetic --- Cytogenetic Analysis --- Health counseling --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal --- Fetal Anomalies --- Fetal Malformations --- Anomaly, Fetal --- Fetal Anomaly --- Fetal Malformation --- Malformation, Fetal
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