MARC details
000 -LEADER |
fixed length control field |
03738nam a22004815i 4500 |
001 - CONTROL NUMBER |
control field |
978-1-4939-2169-0 |
003 - CONTROL NUMBER IDENTIFIER |
control field |
DE-He213 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20160405112812.0 |
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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cr nn 008mamaa |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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150304s2015 xxu| s |||| 0|eng d |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9781493921690 |
-- |
978-1-4939-2169-0 |
024 7# - OTHER STANDARD IDENTIFIER |
Standard number or code |
10.1007/978-1-4939-2169-0 |
Source of number or code |
doi |
050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
Classification number |
RB155-155.8 |
050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
Classification number |
QH431 |
072 #7 - SUBJECT CATEGORY CODE |
Subject category code |
MFN |
Source |
bicssc |
072 #7 - SUBJECT CATEGORY CODE |
Subject category code |
MED107000 |
Source |
bisacsh |
082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
Classification number |
611.01816 |
Edition number |
23 |
082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
Classification number |
599.935 |
Edition number |
23 |
245 10 - TITLE STATEMENT |
Title |
Molecular Genetics of Pediatric Orthopaedic Disorders |
Medium |
[electronic resource] / |
Statement of responsibility, etc |
edited by Carol A. Wise, Jonathan J. Rios. |
264 #1 - |
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New York, NY : |
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Springer New York : |
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Imprint: Springer, |
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2015. |
300 ## - PHYSICAL DESCRIPTION |
Extent |
XII, 168 p. 49 illus., 35 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 |
Formatted contents note |
Overview of next generation, high-throughput molecular genetic methods -- Neurofibromin in skeletal development -- Molecular genetics of congenital multiple large joint dislocation -- DMP-1 in postnatal bone development -- The genetic architecture of idiopathic scoliosis -- Insights into the genetics of clubfoot -- Classification and etiologic dissection of vertebral segmentation anomalies -- Genetic and environmental interaction in malformation of the vertebral column -- Somatic mutations in overgrowth syndromes -- Index. |
520 ## - SUMMARY, ETC. |
Summary, etc |
In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved. Molecular Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians on new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods, the impact this is having on potential study designs, and the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent examples have been included of pediatric orthopaedic conditions, both rare and common, that are being solved with these new methods. The book also educates geneticists and pediatric orthopedic clinicians on our understanding of the biology of “classic” genetic diseases that were derived from prior genetic studies. Chapters include biobanks and strategies for studying very rare disorders, genes and pathways causing primordial dwarfism, notch signaling in congenital scoliosis, and more. |
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Medicine. |
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Human genetics. |
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Orthopedics. |
650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Biomedicine. |
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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 |
Orthopedics. |
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Biomedicine general. |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Wise, Carol A. |
Relator term |
editor. |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Rios, Jonathan J. |
Relator term |
editor. |
710 2# - ADDED ENTRY--CORPORATE NAME |
Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
773 0# - HOST ITEM ENTRY |
Title |
Springer eBooks |
776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
Display text |
Printed edition: |
International Standard Book Number |
9781493921683 |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Uniform Resource Identifier |
<a href="http://dx.doi.org/10.1007/978-1-4939-2169-0">http://dx.doi.org/10.1007/978-1-4939-2169-0</a> |
912 ## - |
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ZDB-2-SBL |