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Record Nr. |
UNINA9910154626103321 |
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Autore |
Turnpenny Peter D. |
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Titolo |
Emery's elements of medical genetics / / Peter D. Turnpenny, Sian Ellard |
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Pubbl/distr/stampa |
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[Saint Louis, Missouri] : , : Elsevier, , 2017 |
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©2017 |
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ISBN |
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Edizione |
[Fifteenth Edition] |
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Descrizione fisica |
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1 online resource (1,017 pages) : illustrations (some color), photographs, tables |
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Disciplina |
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Soggetti |
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Genetics, Medical |
Genetic Diseases, Inborn |
Medical genetics |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Nota di bibliografia |
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Includes bibliographical references and index. |
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Nota di contenuto |
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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. |
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Sommario/riassunto |
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"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 |
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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. |
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