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FXTAS, FXPOI, and other premutation disorders [electronic resource] / 2nd ed

FXTAS, FXPOI, and other premutation disorders [electronic resource] / 2nd ed

자료유형
E-Book(소장)
개인저자
Tassone, Flora. Hall, Deborah A.
서명 / 저자사항
FXTAS, FXPOI, and other premutation disorders [electronic resource] / Flora Tassone, Deborah A. Hall, editors.
판사항
2nd ed.
발행사항
Cham :   Springer International Publishing :   Imprint: Springer,   2016.  
형태사항
1 online resource (ix, 293 p.) : ill. (some col.).
ISBN
9783319338989
요약
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.
일반주기
Title from e-Book title page.  
내용주기
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.
서지주기
Includes bibliographical references and index.
이용가능한 다른형태자료
Issued also as a book.  
일반주제명
Fragile X syndrome. Nervous system --Diseases.
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URL
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001 000046028880
005 20200601133439
006 m d
007 cr
008 200522s2016 sz a ob 001 0 eng d
020 ▼a 9783319338989
040 ▼a 211009 ▼c 211009 ▼d 211009
050 4 ▼a RJ506.F73
082 0 4 ▼a 616.858841 ▼2 23
084 ▼a 616.858841 ▼2 DDCK
090 ▼a 616.858841
245 0 0 ▼a FXTAS, FXPOI, and other premutation disorders ▼h [electronic resource] / ▼c Flora Tassone, Deborah A. Hall, editors.
250 ▼a 2nd ed.
260 ▼a Cham : ▼b Springer International Publishing : ▼b Imprint: Springer, ▼c 2016.
300 ▼a 1 online resource (ix, 293 p.) : ▼b ill. (some col.).
500 ▼a Title from e-Book title page.
504 ▼a Includes bibliographical references and index.
505 0 ▼a 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 ▼a 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.
530 ▼a Issued also as a book.
538 ▼a Mode of access: World Wide Web.
650 0 ▼a Fragile X syndrome.
650 0 ▼a Nervous system ▼x Diseases.
700 1 ▼a Tassone, Flora.
700 1 ▼a Hall, Deborah A.
856 4 0 ▼u https://oca.korea.ac.kr/link.n2s?url=http://dx.doi.org/10.1007/978-3-319-33898-9
945 ▼a KLPA
991 ▼a E-Book(소장)

소장정보

No. 소장처 청구기호 등록번호 도서상태 반납예정일 예약 서비스
No. 1 소장처 중앙도서관/e-Book 컬렉션/ 청구기호 CR 616.858841 등록번호 E14022440 도서상태 대출불가(열람가능) 반납예정일 예약 서비스 M

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