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Providing specific guidance for people with muscular dystrophy and their families, this accessible work answers many questions asked about how and why it occurs, and its affect on the life of a recently diagnosed child.
Muscular dystrophy --- Internal medicine. --- Medicine, Internal --- Medicine --- Muscular dystrophies --- Dystrophy --- Genetic disorders --- Neuromuscular diseases
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What limits the genetic choices parents make for their children? Is it okay to select the sex of our children, or for deaf parents to select deaf children? In this second edition Davis argues that parental reproductive autonomy should be limited by respect for the future autonomy of the children created by these measures.
Genetic counseling. --- Health counseling --- Genetic disorders --- Genetic screening --- Reproductive technology --- Sex preselection. --- Wrongful life. --- Prevention. --- Moral and ethical aspects.
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This title explains clearly what is happening to the body in cystic fibrosis, what causes it and what treatment options are available for the different aspects of the disease. It also looks to the future in terms of potential new therapies and provides useful information on organisations that can provide help.
Cystic fibrosis --- CF (Disease) --- Fibrocystic disease of pancreas --- Mucoviscidosis --- Pancreatic cystic fibrosis --- Fibrosis --- Genetic disorders --- Lungs --- Pancreas --- Diseases
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The reprint, "Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies", provides a collection of original research articles and systematic reviews focused on diverse conditions stemming from a pathogenic single gene mutation. The articles are focused on the molecular mechanisms that are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed.
Genetic disorders --- Rare diseases --- Treatment. --- Rare disorders --- Uncommon diseases --- Diseases --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics
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Genetic disorders. --- Steroids. --- Sterides --- Sterids --- Cyclopentaphenanthrene --- Lipids --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Genetic Diseases, Inborn --- Steroids
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Written by a leader in the field of genomics, this text discusses genomics-based advances in disease susceptibility, diagnosis, prognostication, and prediction of treatment outcomes. A wide range of clinical areas and the applications now afforded by genomic analysis are discussed.
Medical genetics. --- Genomics. --- Genome research --- Genomes --- Molecular genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Research --- Genetic aspects --- Clinical Medicine. --- Genetic Predisposition to Disease. --- Pharmacogenetics.
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Medical genetics. --- Genomics. --- Genome research --- Genomes --- Molecular genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Research --- Genetic aspects --- Genomics, --- Genetics, Medical. --- Genetic Diseases, Inborn.
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The book presents a systematic and detailed introduction on starch debranching enzymes concerning the classification, biochemical properties, features on sequences and structures, enzyme engineering, production, and current applications. All relevant contents are organized to focus on characteristics, productions and industrial applications of the starch debranching enzymes. It is purposed to deepen the understandings on the pre-existing researches, developments, and bottlenecks, and also to discuss the research hotspots and application perspectives of starch debranching enzymes. The book is written for researchers, professional/practitioners and graduate students in the field of enzymology, microbiology, and food science etc.
Enzymology. --- Food science. --- Medical genetics. --- Food Science. --- Medical Genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Food technology --- Chemical engineering --- Biochemistry --- Enzymes --- Genetic aspects --- Industrial applications.
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The aim of this volume is to summarize novel findings on the function, pathophysiology, and regulation of voltage-gated Ca2+ channels and on novel concepts of their pharmacological modulation. Impressive insights into the role of channel function and regulation have come from Ca2+ channelopathies affecting the pore-forming as well as accessory subunits and channel-interacting proteins. Moreover, the long-sought molecular basis for key regulatory pathways have been discovered as well as exciting concepts of their subtype-selective pharmacological modulation.
Pharmacology. --- Medical genetics. --- Human physiology. --- Medical Genetics. --- Human Physiology. --- Human biology --- Medical sciences --- Physiology --- Human body --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Pathology --- Genetic disorders --- Drug effects --- Medical pharmacology --- Chemicals --- Chemotherapy --- Drugs --- Pharmacy --- Genetic aspects --- Physiological effect
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Epigenetics.. --- Medical genetics.. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetics --- Genetic aspects --- Epigenetics. --- Medical genetics. --- Pathologic Processes --- Epigenesis, Genetic --- Genetics, Medical --- genetics
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