MARC details
| 000 -LEADER |
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| fixed length control field |
02822nam a22005055i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-3-642-55288-5 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20160405110618.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
140625s2014 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783642552885 |
| -- |
978-3-642-55288-5 |
| 024 7# - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1007/978-3-642-55288-5 |
| Source of number or code |
doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
RB155-155.8 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
QH431 |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MFN |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MED107000 |
| Source |
bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
611.01816 |
| Edition number |
23 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
599.935 |
| Edition number |
23 |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
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| Personal name |
Liehr, Thomas. |
| Relator term |
author. |
| 245 10 - TITLE STATEMENT |
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| Title |
Uniparental Disomy (UPD) in Clinical Genetics |
| Medium |
[electronic resource] : |
| Remainder of title |
A Guide for Clinicians and Patients / |
| Statement of responsibility, etc |
by Thomas Liehr. |
| 264 #1 - |
|---|
| -- |
Berlin, Heidelberg : |
| -- |
Springer Berlin Heidelberg : |
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Imprint: Springer, |
| -- |
2014. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
XVIII, 192 p. 36 illus., 26 illus. in color. |
| Other physical details |
online resource. |
| 336 ## - |
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| -- |
text |
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txt |
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rdacontent |
| 337 ## - |
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computer |
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c |
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rdamedia |
| 338 ## - |
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online resource |
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cr |
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rdacarrier |
| 347 ## - |
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| -- |
text file |
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PDF |
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rda |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
Introduction -- Formation of UPD -- UPD in diagnostics and genetic counseling -- UPD related syndromes caused by imprinting -- Maternal UPD by chromosome -- Paternal UPD by chromosome -- UPD of unclear parental origin by chromosome -- UPD of multiple chromosomes or chromosomal regions -- Acquired UPD -- Patient organizations in connection with UPD-. Glossary-. References -- Index. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc |
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Cytogenetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Laboratory medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Reproductive medicine. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Biomedicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Human Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Cytogenetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Reproductive Medicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Laboratory Medicine. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
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| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
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| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
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| Display text |
Printed edition: |
| International Standard Book Number |
9783642552878 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
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| Uniform Resource Identifier |
<a href="http://dx.doi.org/10.1007/978-3-642-55288-5">http://dx.doi.org/10.1007/978-3-642-55288-5</a> |
| 912 ## - |
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ZDB-2-SBL |
