ORPP logo

Life Span Development in Genetic Disorders : (Record no. 59667)

MARC details
000 -LEADER
fixed length control field 05965nam a22004813i 4500
001 - CONTROL NUMBER
control field EBC3018455
003 - CONTROL NUMBER IDENTIFIER
control field MiAaPQ
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20240729124101.0
006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS
fixed length control field m o d |
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr cnu||||||||
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 240724s2008 xx o ||||0 eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9781608762507
Qualifying information (electronic bk.)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
Canceled/invalid ISBN 9781604568394
035 ## - SYSTEM CONTROL NUMBER
System control number (MiAaPQ)EBC3018455
035 ## - SYSTEM CONTROL NUMBER
System control number (Au-PeEL)EBL3018455
035 ## - SYSTEM CONTROL NUMBER
System control number (CaPaEBR)ebr10660316
035 ## - SYSTEM CONTROL NUMBER
System control number (OCoLC)923658410
040 ## - CATALOGING SOURCE
Original cataloging agency MiAaPQ
Language of cataloging eng
Description conventions rda
-- pn
Transcribing agency MiAaPQ
Modifying agency MiAaPQ
050 #4 - LIBRARY OF CONGRESS CALL NUMBER
Classification number RB155.5 -- .L54 2008eb
082 0# - DEWEY DECIMAL CLASSIFICATION NUMBER
Classification number 616/.042
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Verri, Annapia.
245 10 - TITLE STATEMENT
Title Life Span Development in Genetic Disorders :
Remainder of title Behavioral and Neurological Aspects.
250 ## - EDITION STATEMENT
Edition statement 1st ed.
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture New York :
Name of producer, publisher, distributor, manufacturer Nova Science Publishers, Incorporated,
Date of production, publication, distribution, manufacture, or copyright notice 2008.
264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice ©2008.
300 ## - PHYSICAL DESCRIPTION
Extent 1 online resource (244 pages)
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# - FORMATTED CONTENTS NOTE
Formatted contents note Intro -- LIFE SPAN DEVELOPMENT IN GENETIC DISORDERS: BEHAVIORAL AND NEUROBIOLOGICAL ASPECTS -- NOTICE TO THE READER -- CONTENTS -- INTELLIGENCE: AN OVERVIEW -- INTRODUCTION -- Association and Dissociation: A Rapprochement through Structural Modelling -- The Biology of g -- MOLECULAR GENETICS -- REFERENCES -- DIAGNOSTIC EVALUATION OF THE CHILDAFFECTED WITH INTELLECTUAL DISABILITY:A CLINICAL GENETIC PERSPECTIVE -- ABSTRACT -- INTRODUCTION -- Some Useful Definitions -- What is the Correct Methodological Approach to a Patient with Psychomotor or Intellectual Disability? -- How to Arrive to the Correct Etiologic Diagnosis? -- Laboratory Help to the Diagnostic Pathway -- Some Open Problems -- REFERENCES -- BRAIN AND BEYOND THE BRAIN: THE BIOLOGICAL PROFILE OF DOWN SYNDROME -- ABSTRACT -- INTRODUCTION -- Brain in DS -- Down Syndrome: Beyond the Brain -- REFERENCES -- LIFE SPAN DEVELOPMENT IN TURNER SYNDROME (TS) -- ABSTRACT -- INTRODUCTION -- CASE REPORT 1 -- Developmental History -- Objective Evaluation -- Neurophysiological and Neuroradiological Findings -- Cognitive-Behavioral Assessment -- DISCUSSION -- CASE REPORT 2 -- Developmental History -- Clinical Evaluation, Neurophysiological and Neuroradiological Findings -- Cognitive-behavioral Assesment -- DISCUSSION -- REFERENCES -- LIFE SPAN DEVELOPMENT IN KLINEFELTER SYNDROME -- ABSTRACT -- INTRODUCTION -- Klinefelter Variants -- DIAGNOSIS -- TREATMENT -- COMPLICATIONS -- PROGNOSIS -- GENETIC COUNSELING -- REFERENCES -- LIFE SPAN DEVELOPMENT IN XYY -- ABSTRACT -- INTRODUCTION -- Clinical Description -- Cognitive and Social Abilities -- Psychiatric Comorbidity in XYY Syndrome -- CLINICAL REPORT: THE CASE OF P.G. -- Neurophysiological Evaluation -- Neuroradiological Findings -- Cognitive and Behavioural Assessment -- DISCUSSION -- REFERENCES.
505 8# - FORMATTED CONTENTS NOTE
Formatted contents note NEUROBIOLOGICAL ADVANCES IN THE FRAGILE X FAMILY OF DISORDERS AND TARGETED TREATMENT -- ABSTRACT -- INTRODUCTION -- PREVALENCE -- CLINICAL FEATURES OF FRAGILE X SYNDROME -- AUTISM AND FRAGILE X SYNDROME -- CLINICAL FEATURES IN PREMUTATION CARRIERS INCLUDING FXTAS -- TARGETED TREATMENT FOR FRAGILE X SYNDROME -- SCREENING FOR FRAGILE X -- ACKNOWLEDGEMENTS -- REFERENCES -- LIFE SPAN DEVELOPMENT IN NANCE-HORAN SYNDROME (NHS) -- 1. ABSTRACT -- 2. INTRODUCTION -- 3. CASE REPORT -- Developmental History -- Neurophysiological and Neuroradiological Findings -- Cognitive-Behavioural Assessment -- Discussion -- REFERENCES -- IDIOPATHIC HYPOPARATHYROIDISM AND CHROMOSOME 10P DELETION -- ABSTRACT -- INTRODUCTION -- CASE REPORT -- Psychological Evalution -- Cytogenetic Results -- DISCUSSION -- REFERENCES -- LIFE SPAN DEVELOPMENT IN INTERSTITIAL DELETION CHROMOSOME 21 -- ABSTRACT -- INTRODUCTION -- CASE REPORT -- Clinical and Developmental History -- Neurological Evaluation Neuroradiological Findings -- Cognitive Behavioral Assesment -- DISCUSSION -- REFERENCES -- COGNITIVE ENRICHMENT ISSUE -- ABSTRACT -- INTRODUCTION -- COGNITIVE ENRICHMENT ISSUE -- COGNITIVE ENRICHMENT IN GENETIC SYNDROMES WITH INTELLECTUAL DISABILITY -- REFERENCES -- REHABILITATION ISSUES -- ABSTRACT -- 1. INTRODUCTION -- 2. DOWN SYNDROME -- 3. SEX CHROMOSOME ABNORMALITIES: ANEUPLOIDIES [TURNER SYNDROME -- KLINEFELTER SYNDROME] -- Turner's Syndrome -- Klinefelter's Syndrome -- 4. MICRODELETION SYNDROMES:10Q- SYNDROME, NANCE-HORAN SYNDROME -- Microdeletion Syndromes (Chromosome 10q Deletion Syndrome) -- Nance-Horan Syndrome -- 5. REHABILITATION -- The Neurorehabilitation Team -- The "Health Care Complexity" -- Measurement of Childhood Disability -- The International Classification of Functioning (ICF) -- 6. CONCLUSION -- REFERENCES.
505 8# - FORMATTED CONTENTS NOTE
Formatted contents note NARRATIVE BASED MEDICINE IN GENETIC SYNDROMES WITH INTELLECTUAL DISABILITY -- ABSTRACT -- INTRODUCTION -- OVERVIEW -- METHOD -- a. Premises -- b. Limitations of Psychometric Methods -- c. Our Unique Method of Collecting Life Stories -- SOME CONSIDERATIONS ON UNDERLYING EPISTEMOLOGICAL ASPECTS -- The methodology -- TWO STORIES -- a. Eleonora: Title: Power of Information -- b. Alberto: Title: At work with a fever -- A Rare Syndrome -- CONCLUDING REMARKS -- ACKNOWLEDGEMENTS -- REFERENCES -- INDEX.
588 ## - SOURCE OF DESCRIPTION NOTE
Source of description note Description based on publisher supplied metadata and other sources.
590 ## - LOCAL NOTE (RLIN)
Local note Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic disorders.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Developmental disabilities -- Genetic aspects.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Developmental genetics.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Developmental psychology.
655 #4 - INDEX TERM--GENRE/FORM
Genre/form data or focus term Electronic books.
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Relationship information Print version:
Main entry heading Verri, Annapia
Title Life Span Development in Genetic Disorders
Place, publisher, and date of publication New York : Nova Science Publishers, Incorporated,c2008
International Standard Book Number 9781604568394
797 2# - LOCAL ADDED ENTRY--CORPORATE NAME (RLIN)
Corporate name or jurisdiction name as entry element ProQuest (Firm)
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=3018455">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=3018455</a>
Public note Click to View

No items available.

© 2024 Resource Centre. All rights reserved.