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The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes.
The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.
Über die Autorin bzw. den Autor:
Roger E. Stevenson, M.D., is a senior clinical geneticist and founder of the Greenwood Genetic Center.
Charles E. Schwartz, Ph.D., is the Director of Research and Head of J.C. Self Research Institute at the Greenwood Genetic Center.
R. Curtis Rogers, M.D., is a senior clinical geneticist at the Greenwood Genetic Center.
Titel: Atlas of X-Linked Intellectual Disability ...
Verlag: Oxford University Press
Erscheinungsdatum: 2012
Einband: Hardcover
Zustand: New
Auflage: 2. Auflage
Anbieter: Powell's Bookstores Chicago, ABAA, Chicago, IL, USA
Zustand: Used - Like New. 2012. Hardcover. Fine. Artikel-Nr. Z0144540
Anzahl: 1 verfügbar
Anbieter: BooksRun, Philadelphia, PA, USA
Hardcover. Zustand: Good. 2. It's a preowned item in good condition and includes all the pages. It may have some general signs of wear and tear, such as markings, highlighting, slight damage to the cover, minimal wear to the binding, etc., but they will not affect the overall reading experience. Artikel-Nr. 0199811792-11-1
Anzahl: 1 verfügbar
Anbieter: Better World Books Ltd, Dunfermline, Vereinigtes Königreich
Zustand: Very Good. Ships from the UK. Former library book; may include library markings. Used book that is in excellent condition. May show signs of wear or have minor defects. Artikel-Nr. 52063173-20
Anzahl: 1 verfügbar
Anbieter: PsychoBabel & Skoob Books, Didcot, Vereinigtes Königreich
Hardcover. Zustand: Very Good. Zustand des Schutzumschlags: No Dust Jacket. Hardcover. No jacket. Second edition. Superficial marks and light scores on boards. Spine ends are very lightly bumped. Leading corners are very lightly worn. One or two minor marks on page block. Pages are clean and contents are clear throughout. Binding is sound. HJW. Used. Artikel-Nr. 302648
Anzahl: 1 verfügbar
Anbieter: Buchpark, Trebbin, Deutschland
Zustand: Sehr gut. Zustand: Sehr gut | Sprache: Englisch | Produktart: Bücher. Artikel-Nr. 11543463/2
Anzahl: 1 verfügbar
Anbieter: Romtrade Corp., STERLING HEIGHTS, MI, USA
Zustand: New. This is a Brand-new US Edition. This Item may be shipped from US or any other country as we have multiple locations worldwide. Artikel-Nr. ABNR-138176
Anzahl: 1 verfügbar
Anbieter: Majestic Books, Hounslow, Vereinigtes Königreich
Zustand: New. pp. 368 500 Illus. Artikel-Nr. 38546929
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