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Genetic diseases and developmental disabilities : aspects of detection and prevention

Author: Tamah L Sadick; Siegfried M Pueschel
Publisher: London : Routledge, 2019.
Series: AAAS selected symposium, 33.
Edition/Format:   eBook : Document : EnglishView all editions and formats
Summary:
Advances in medical genetics during the past two decades have made possible the detection and prevention of many genetic disorders and developmental disabilities. The emphasis of this book is on the application of these new developments to real-life situations. Covering homozygote newborn screening, heterozygote detection in the community, and pren
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Genre/Form: Electronic books
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Tamah L Sadick; Siegfried M Pueschel
ISBN: 9780429048159 0429048157 9780429727085 0429727089 9780429707070 042970707X 9780429747090 0429747098
OCLC Number: 1102064133
Description: 1 online resource.
Contents: Introduction -- Overview -- Prevention Through Screening and Carrier Detection -- Genetic Screening -- Screening of Newborn Infants -- Screening for Alpha-1-antitrypsin Deficiency -- Carrier Detection in Duchenne Muscular Dystrophy and Implications for Genetic Counseling in X-linked Disease -- Recent Advances and Experience in Prenatal Diagnosis -- Prenatal Diagnosis of Chromosomal Disorders -- Prenatal Detection of Neural Tube Defects -- Prenatal Diagnosis by Fetoscopy and Fetal Blood Sampling Including Initial Attempts to Diagnose Duchenne Muscular Dystrophy -- Prenatal Diagnosis of the Hemoglobinopathies -- Bridging the Gap Between Research and Practice -- A Place for Genetics in Health Education and Vice-Versa
Series Title: AAAS selected symposium, 33.
Responsibility: edited by Tamah L. Sadick and Siegfried M. Pueschel.

Abstract:

Advances in medical genetics during the past two decades have made possible the detection and prevention of many genetic disorders and developmental disabilities. The emphasis of this book is on the application of these new developments to real-life situations. Covering homozygote newborn screening, heterozygote detection in the community, and pren

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