| 000 -LEADER |
|---|
| fixed length control field |
02214cam a2200241 i 4500 |
| 001 - CONTROL NUMBER |
|---|
| control field |
19962259 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
|---|
| control field |
20230728145151.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
170824s2017 paua b 001 0 eng |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9780702066856 |
| 040 ## - CATALOGING SOURCE |
|---|
| Transcribing agency |
UG |
| 050 00 - LIBRARY OF CONGRESS CALL NUMBER |
|---|
| Classification number |
RB155 |
| Item number |
E5 2017 |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Turnpenny, Peter D., |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
Emery's elements of medical genetics / |
| Statement of responsibility, etc |
Peter D. Turnpenny, BSc, MB, ChB, FRCP, FRCPCH, FRCPath, FHEA, Consultant Clinical Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Honorary Clinical Professor, University of Exeter Medical School, Sian Ellard, BSc, PhD, FRCPath, Consultant Clinical Molecular Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Professor of Molecular Genetics and Genomic Medicine, University of Exeter Medical School. |
| 246 30 - VARYING FORM OF TITLE |
|---|
| Title proper/short title |
Elements of medical genetics |
| 250 ## - EDITION STATEMENT |
|---|
| Edition statement |
Edition 15. |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
|---|
| Place of publication, distribution, etc |
[Philadelphia, PA] : |
| Name of publisher, distributor, etc |
Elsevier, |
| Date of publication, distribution, etc |
[2017] |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
x, 400 pages : |
| Other physical details |
illustrations. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE |
|---|
| Bibliography, etc |
Includes bibliographical references and index. |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
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. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Medical genetics. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Ellard, Sian, |
| Relator term |
author. |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Entry Department |
sys |
| Source of classification or shelving scheme |
|