Franklin

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

Author/Creator:
Turnpenny, Peter D. author.
Publication:
[Philadelphia, PA] : Elsevier, [2022]
Format/Description:
Book
1 online resource : illustrations
Edition:
Sixteenth edition.
Status/Location:
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Details

Other Title:
Elements of medical genetics and genomics
Subjects:
Medical genetics.
Genomics.
Form/Genre:
Electronic books.
System Details:
data file
Contents:
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.
Notes:
Revised edition of: Emery's elements of medical genetics / Peter D. Turnpenny, Sian Ellard. 15th edition. ©2017.
Includes bibliographical references.
Online resource; title from table of contents page (Elsevier ClinicalKey, viewed March 5, 2021).
Contributor:
Ellard, Sian, author.
Cleaver, Ruth, author.
Other format:
Print version: Turnpenny, Peter D. Emery's elements of medical genetics and genomics.
ISBN:
0702079669
9780702079665
OCLC:
1240546768
Access Restriction:
Restricted for use by site license.