the 22q11 2 chromosome deletion syndrome

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Genomic Disorders
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Publisher : Springer Science & Business Media
Release Date :
ISBN 10 : 1597450391
Pages : 426 pages
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A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Genomic Disorders

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA

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Velo Cardio Facial Syndrome

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full

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Autism and Other Neurodevelopmental Disorders

Autism and Other Neurodevelopmental Disorders gathers and organizes the most recent information in this important and rapidly expanding field into a clinically useful volume that will enable clinicians, patients, and families to understand these disorders and make sound treatment decisions in light of recent research. The editors, as well as

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Secondary Schizophrenia

Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This

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Behavioural Phenotypes

A timely distillation of current thinking on the presentation of behavioural disorders and their origins.

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Missing Genetic Pieces

VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.

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Genetics of Developmental Disabilities

Published in 2005: Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientific understanding of developmental disabilities.

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Vulnerability to Psychosis

This book postulates that the trigger of the psychotic condition is located in the basic processes which structure the first emotional relations. It presents some of the reasons why patients succumb to the attraction of a course doomed to result in the permanent derangement of their minds.

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Autism Diagnostic Observation Schedule

Download or read online Autism Diagnostic Observation Schedule written by Catherine Lord, published by Unknown which was released on 2002. Get Autism Diagnostic Observation Schedule Books now! Available in PDF, ePub and Kindle.

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Autism Spectrum Disorder

This book starts with a new sub category of Autism Criminal Autistic Psychopathy and school shootings. It focuses on a number of interventions, including speech and language pathology, speech and language assessment instruments, occupational therapy, improving functional language development in autism with natural gestures, communication boards etc as well as

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Cassidy and Allanson s Management of Genetic Syndromes

The most recent update to one of the most essential references on medical genetics Cassidy and Allanson's Management of Genetic Syndromes, 4th Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on

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A Program For You

A Program for You leads each of us--newcomer or old-timer--to a deeper understanding of recovery as a way of life. A Program for You clears our way for discovering positive, powerful answers to these questions. In the years since 1939, the Big Book, Alcoholics Anonymous, has guided millions in their search

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Neonatal Hematology

This is a practical guide to the pathogenesis, recognition and management of hematologic problems in the neonate.

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Prospective Memory in Clinical Populations

Prospective memory has emerged as an important aspect of episodic memory. Prospective memory involves remembering to complete a previously formed intention. Successful prospective memory performance is important in daily life tasks such as taking medications or paying bills and has been related to compliance with treatment. Prospective memory has now

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Velo Cardio Facial Syndrome Volume 2

Download or read online Velo Cardio Facial Syndrome Volume 2 written by Karen J. Golding-Kushner,Robert J. Shprintzen, published by Plural Publishing which was released on 2011-04-01. Get Velo Cardio Facial Syndrome Volume 2 Books now! Available in PDF, ePub and Kindle.

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