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Genetic disorders. --- Genetic disorders in children. --- Syndromes in children. --- Genetic disorders --- Genetic disorders in children --- Noonan Syndrome --- Comorbidity. --- Child. --- Infant. --- Treatment. --- diagnosis. --- therapy.
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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.
Proteins --- Homeostasis. --- Genetic disorders --- Metabolism. --- Treatment.
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Human genetics --- Human biochemistry --- Genetic disorders --- Ion channels --- Ion Channels --- Hereditary Diseases --- Molecular aspects --- Congresses. --- genetics --- congresses --- etiology --- Genetic disorders - Molecular aspects - Congresses. --- Ion channels - Congresses. --- Ion Channels - genetics - congresses --- Hereditary Diseases - etiology - congresses
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Human genetics --- Pathological physiology. Pathogenesis --- Paediatrics --- Abnormalities --- Developmental disabilities --- Genetic disorders in children --- diagnosis. --- therapy. --- Complications --- Prevention.
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Human genetics --- RBINS-SYMPOSIUM --- Conferences - Meetings --- Human population genetics --- Medical genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Medical sciences --- Pathology --- Genetic disorders --- Population genetics
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Immunology. Immunopathology --- Human genetics --- Infectious diseases. Communicable diseases --- Heredity of disease --- Immunogenetics --- Hereditary diseases --- Congresses --- Genetic disorders --- Congresses. --- Medical genetics --- Genetic Diseases, Inborn
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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."--
Genetics --- Human genetics --- Social medicine --- Disease susceptibility --- Family medicine. --- Medical genetics. --- Genetic disorders. --- Human chromosome abnormalities --- Genetic aspects. --- Diagnosis. --- Genetics, Medical. --- Genetic Diseases, Inborn.
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Genetic disorders --- Lungs --- Lung Diseases --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Lung --- Cardiopulmonary system --- Chest --- Respiratory organs --- Diseases&delete& --- Genetic aspects --- genetics --- Human genetics --- Pathology of the respiratory system --- Genetic disorders. --- Genetic aspects. --- familial & genetic.
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Human genetics --- Chromosomes. --- Human chromosome abnormalities --- Medical genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Human chromosomes --- Chromosome abnormalities --- Chromosome --- Genetic aspects --- Abnormalities --- Human chromosome abnormalities. --- Human chromosomes. --- Medical genetics. --- Chromosomes
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Molecular biology --- Genetic counseling. --- Genetic disorders --- Medical genetics. --- Recombinant DNA. --- DNA, Recombinant. --- Genetic Counseling. --- Hereditary Diseases --- Risk. --- Diagnosis --- Social aspects. --- prevention & control. --- Recombinant dna. --- Dna, recombinant. --- Hereditary diseases --- Prevention & control.
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