Emery's elements of medical genetics and genomics / Peter D. Turnpenny, Sian Ellard, Ruth Cleaver.

Bibliographic Details
Main Authors: Turnpenny, Peter D. (Author)
Ellard, Sian (Author)
Cleaver, Ruth (Author)
Language:English
Published: [Philadelphia, PA] : Elsevier, [2022]
Edition:Edition 16.
Subjects:
Physical Description:x, 435 pages : illustrations ; 27 cm
Variant Title:
Elements of medical genetics and genomics
Format: Book

MARC

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245 1 0 |a Emery's elements of medical genetics and genomics /  |c Peter D. Turnpenny, Sian Ellard, Ruth Cleaver. 
246 3 0 |a Elements of medical genetics and genomics 
250 |a Edition 16. 
264 1 |a [Philadelphia, PA] :  |b Elsevier,  |c [2022] 
264 4 |c ©2022 
300 |a x, 435 pages :  |b illustrations ;  |c 27 cm 
336 |a text  |b txt  |2 rdacontent 
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504 |a Includes bibliographical references and index. 
505 0 |a 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, precision 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. 
650 0 |a Medical genetics.  |0 http://id.loc.gov/authorities/subjects/sh85082937 
650 0 |a Genomics.  |0 http://id.loc.gov/authorities/subjects/sh2002000809 
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650 7 |a Medical genetics.  |2 fast  |0 (OCoLC)fst01014133 
700 1 |a Ellard, Sian,  |e author.  |0 http://id.loc.gov/authorities/names/no2005003052 
700 1 |a Cleaver, Ruth,  |e author.  |0 http://id.loc.gov/authorities/names/no2021110179 
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