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Chromosome Abnormalities and Genetic Counseling

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Author :
Release : 2012
Genre : Medical
Kind : eBook
Book Rating : 335/5 ( reviews)

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Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner

Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner. This book was released on 2012. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Chromosome Number 16

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Author :
Release : 2004
Genre :
Kind : eBook
Book Rating : /5 ( reviews)

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Book Synopsis Chromosome Number 16 by : Human Genome Project

Download or read book Chromosome Number 16 written by Human Genome Project. This book was released on 2004. Available in PDF, EPUB and Kindle. Book excerpt:

Autism Spectrum Disorders

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Author :
Release : 2015-02-11
Genre : Medical
Kind : eBook
Book Rating : 026/5 ( reviews)

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Book Synopsis Autism Spectrum Disorders by : M. Créteil

Download or read book Autism Spectrum Disorders written by M. Créteil. This book was released on 2015-02-11. Available in PDF, EPUB and Kindle. Book excerpt: Accurate and exhaustive, this book provides a wide overview of the current knowledge on phenotypes, mechanisms and treatment of autism spectrum disorders. It covers topics on diagnostic issues, comorbid conditions and therapeutic strategies along with a detailed discussion on the actual understanding of the pathophysiology of autism disorders. More specifically, this book reviews in detail the current knowledge on the comorbidity between mental and medical disorders, describes abnormal cognitive and social development and gives a thorough overview on genetic as well as brain imaging abnormalities observed in autism spectrum disorders. In addition, the current literature on environmental risk factors which may provide an explanation for the increased prevalence of autism is being described. The last chapter gives an extensive review of early detection and early therapeutic interventions encompassing psycho-social and pharmacological strategies. Each chapter is easy to read and gives the reader access to the most important information on each topic covered. This book provides innovative reading material for medical students, psychologists, researchers and clinicians who need accurate information on the best available diagnostic and therapeutic strategies as well as on up-to-date research data.

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

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Author :
Release : 2007
Genre : Bones
Kind : eBook
Book Rating : 316/5 ( reviews)

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Book Synopsis Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias by : Ralph S. Lachman

Download or read book Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias written by Ralph S. Lachman. This book was released on 2007. Available in PDF, EPUB and Kindle. Book excerpt: "Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.

ISCN 2013

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Release : 2013
Genre : Medical
Kind : eBook
Book Rating : 535/5 ( reviews)

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Book Synopsis ISCN 2013 by : International Standing Committee on Human Cytogenetic Nomenclature

Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature. This book was released on 2013. Available in PDF, EPUB and Kindle. Book excerpt: This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

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