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Diagnostic Genetic Testing (Record no. 100806)

MARC details
000 -LEADER
fixed length control field 03388nam a22004455i 4500
001 - CONTROL NUMBER
control field 978-3-030-85510-9
003 - CONTROL NUMBER IDENTIFIER
control field DE-He213
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20240729133814.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr nn 008mamaa
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 211113s2022 sz | s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9783030855109
-- 978-3-030-85510-9
072 #7 - SUBJECT CATEGORY CODE
Subject category code MFN
Source bicssc
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED107000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MFN
Source thema
100 1# - MAIN ENTRY--PERSONAL NAME
Personal author Bourn, David.
Relator term author.
Relator code aut
-- http://id.loc.gov/vocabulary/relators/aut
245 10 - TITLE STATEMENT
Title Diagnostic Genetic Testing
Subtitle : Core Concepts and the Wider Context for Human DNA Analysis /
250 ## - EDITION
Edition statement 1st ed. 2022.
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture Cham :
Name of producer, publisher, distributor, manufacturer Springer International Publishing :
-- Imprint: Springer,
Date of production, publication, distribution, manufacture, or copyright notice 2022.
300 ## - PHYSICAL DESCRIPTION
Physical description XXII, 131 p. 17 illus., 13 illus. in color.
Other physical details online resource.
336 ## - CONTENT TYPE
Content type term text
Content type code txt
Source rdacontent
337 ## - MEDIA TYPE
Media type term computer
Media type code c
Source rdamedia
338 ## - CARRIER TYPE
Carrier type term online resource
Carrier type code cr
Source rdacarrier
505 0# - CONTENTS
Contents Genetic Testing, Some Themes and Some Basics -- Autosomal Dominant Inheriance and Huntington Disease -- Autosomal Recessive Inheritance and Cystic Fibrosis -- X-linked Inheritance: a Question of Gender -- Genetics Testing in Cancer -- DNA Testing, Genes and Identity -- Out of Sequence: Genome-Scale Testing -- DNA Testing: Pulling the Strands Together.
520 ## - ABSTRACT
Abstract Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
650 #0 - SUBJECT HEADINGS
Subject term Medical genetics.
650 #0 - SUBJECT HEADINGS
Subject term Diagnosis.
650 #0 - SUBJECT HEADINGS
Subject term Bioethics.
9 (RLIN) 5378
650 14 - SUBJECT HEADINGS
Subject term Medical Genetics.
650 24 - SUBJECT HEADINGS
Subject term Diagnosis.
650 24 - SUBJECT HEADINGS
Subject term Bioethics.
9 (RLIN) 5378
710 2# - ADDED CORPORATE NAME
Added corporate author SpringerLink (Online service)
856 ## - ONLINE RESOURCE
Uniform Resource Identifier <a href="#gotoholdings">#gotoholdings</a>
Link text Access resource
245 ## - TITLE STATEMENT
Medium [E-Book]
347 ## - DIGITAL FILE CHARACTERISTICS
File type text file
Encoding format PDF
Source rda
912 ## -
-- ZDB-2-SBL
912 ## -
-- ZDB-2-SXB
Holdings
Withdrawn status Lost status Damaged status Not for loan Home library Current library Shelving location Date acquired Source of acquisition Total Checkouts Date last seen Uniform Resource Identifier Price effective from Koha item type
        Hillingdon Hospitals Library Services (Hillingdon Hospitals NHS Foundation) Hillingdon Hospitals Library Services (Hillingdon Hospitals NHS Foundation) Online 02/05/2024 Springer BiomedLifeSc   02/05/2024 https://go.openathens.net/redirector/nhs?url=https://doi.org/10.1007/978-3-030-85510-9 02/05/2024 Electronic book
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