MARC details
| 000 -LIDER |
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| fixed length control field |
02991nam a22005175i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-3-319-33898-9 |
| 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 |
20180206183000.0 |
| 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 |
161117s2016 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783319338989 |
| -- |
978-3-319-33898-9 |
| 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 |
| 245 10 - TITLE STATEMENT |
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| Title |
FXTAS, FXPOI, and Other Premutation Disorders |
| Medium |
[recurso electrónico] / |
| Statement of responsibility, etc. |
edited by Flora Tassone, Deborah A. Hall. |
| 250 ## - EDITION STATEMENT |
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| Edition statement |
2nd ed. 2016. |
| 264 #1 - |
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| -- |
Cham : |
| -- |
Springer International Publishing : |
| -- |
Imprint: Springer, |
| -- |
2016. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
IX, 293 p. 22 illus., 12 illus. in color. |
| Other physical details |
online resource. |
| 336 ## - |
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| -- |
text |
| -- |
txt |
| -- |
rdacontent |
| 337 ## - |
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| -- |
computer |
| -- |
c |
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rdamedia |
| 338 ## - |
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| -- |
online resource |
| -- |
cr |
| -- |
rdacarrier |
| 347 ## - |
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| -- |
text file |
| -- |
PDF |
| -- |
rda |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
1.Clinical Neurological Phenotype of FXTAS -- 2.The Epidemiology of FXTAS -- 3.FXTAS: Neuropsychological and Neuropsychiatric Phenotypes -- 4.Neuroimaging Findings in FXTAS -- 5.The Pathology of FXTAS -- 6.The Molecular Biology of FXTAS -- 7.Genotype/Phenotype Relationships in FXTAS -- 8.Mouse Models for FXTAS and the Fragile X Premutation -- 9.Treatment and Management of FXTAS -- 10.Clinical manifestation and management of FXPOI -- 11.Model systems for understanding FXPOI -- 12.Premutation-Associated Disorders in Childhood and Adulthood -- 13.Genetic Counseling for FXTAS and Fragile X-associated disorders. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Molecular biology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Neurosciences. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Biomedicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Human Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Molecular Medicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Neurosciences. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Tassone, Flora. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Hall, Deborah A. |
| Relator term |
editor. |
| 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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| Relationship information |
Printed edition: |
| International Standard Book Number |
9783319338965 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
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| Public note |
Libro electrónico |
| Uniform Resource Identifier |
http://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-319-33898-9 |
| 912 ## - |
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| -- |
ZDB-2-SBL |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Libro Electrónico |
