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Emery's elements of medical genetics / / Peter D. Turnpenny, Sian Ellard



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Autore: Turnpenny Peter D. Visualizza persona
Titolo: Emery's elements of medical genetics / / Peter D. Turnpenny, Sian Ellard Visualizza cluster
Pubblicazione: [Saint Louis, Missouri] : , : Elsevier, , 2017
©2017
Edizione: Fifteenth Edition
Descrizione fisica: 1 online resource (1,017 pages) : illustrations (some color), photographs, tables
Disciplina: 616.042
Soggetto topico: Genetics, Medical
Genetic Diseases, Inborn
Medical genetics
Persona (resp. second.): EllardSian
Note generali: Includes index.
Nota di bibliografia: Includes bibliographical references and index.
Nota di contenuto: The history and impact of genetics in medicine -- Section A: The scientific basis of human genetics -- The cellular and molecular basis of inheritance -- Chromosomes and cell division -- Finding the cause of monogenic disorders by identifying disease genes -- Laboratory techniques for diagnosis of monogenic disorders -- Patterns of inheritance -- Population and mathematical genetics -- Risk calculation -- Developmental genetics -- Section B: Genetics in medicine and genomic medicine -- Common disease, polygenic and multifactorial genetics -- Screening for genetic disease -- Hemoglobin and the hemoglobinopathies -- Immunogenetics -- The genetics of cancer and cancer genetics -- Pharmacogenetics, personalized medicine and the treatment of genetic disease -- Section C: Clinical genetics, counseling, and ethics -- Congenital, abnormalities, dysmorphic syndromes, and learning disability -- Chromosome disorders -- Inborn errors of metabolism -- Mainstream monogenetic disorders -- Prenatal testing and reproductive genetics -- Genetic counseling -- Ethical and legal issues in medical genetics.
Sommario/riassunto: "Everything a student needs to know about medical genetics is here in the 15th ediction of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery's enviable reputation for successfully balancing up-to-dateness in a rapidly developing field witha strong basis in practical clinical genetics for medical students." --Back Cover.
Titolo autorizzato: Emery's elements of medical genetics  Visualizza cluster
ISBN: 0-7020-6689-3
Formato: Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione: Inglese
Record Nr.: 9910154626103321
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