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Noonan Syndrome
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ISBN: 9780128153499 0128153490 0128153482 9780128153482 Year: 2019 Publisher: London

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PROTEIN HOMEOSTASIS DISEASES
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ISBN: 9780128191330 0128191333 9780128191323 0128191325 Year: 2020 Publisher: [S.l.] ELSEVIER ACADEMIC PRESS

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Protein Homeostasis Diseases: Mechanisms and Novel Therapies offers an interdisciplinary examination of the fundamental aspects, biochemistry and molecular biology of protein homeostasis disease, including the use of natural and pharmacological small molecules to treat common and rare protein homeostasis disorders. Contributions from international experts discuss the biochemical and genetic components of protein homeostasis disorders, the mechanisms by which genetic variants may cause loss-of-function and gain-of-toxic-function, and how natural ligands can restore protein function and homeostasis in genetic diseases. Applied chapters provide guidance on employing high throughput sequencing and screening methodologies to develop pharmacological chaperones and repurpose approved drugs to treat protein homeostasis disorders.

Ion channels and genetic diseases
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ISBN: 0874700574 9780874700572 Year: 1995 Volume: 50 48 Publisher: New York Rockefeller University Press

Preventive management of children with congenital anomalies and syndromes
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ISBN: 0521776732 Year: 2000 Publisher: Cambridge Cambridge University Press

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Genetic polymorphisms and diseases in man : sheba International Symposium 18 to 22 March 1973, Tel Aviv
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ISBN: 0125771401 Year: 1974 Publisher: New York Academic Press

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Genetic control of immune responsiveness : relationship to disease susceptibility
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ISBN: 0124832504 1299819338 0323148255 Year: 1972 Publisher: New York : Academic Press,


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Managing health in the genomic era
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ISBN: 9780128160169 0128160160 9780128160152 0128160152 Year: 2020 Publisher: London, United Kingdom

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"In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analyzing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors that influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice. Here, frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided."--

Inherited diseases of the lung.
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ISBN: 0721627633 Year: 1988 Publisher: Philadelphia (Pa.) Saunders

Human chromosomes
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ISBN: 0122621506 Year: 1973 Publisher: London Academic press

Proceed with caution: predicting genetic risks in the recombinant DNA era
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ISBN: 0801837375 Year: 1989 Publisher: Baltimore, Md Johns Hopkins University Press

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