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Bone marrow --- Genetic disorders --- Cancer --- Diseases --- Genetic aspects --- Research --- Research --- Prevention.
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Bone marrow --- Genetic disorders --- Cancer --- Diseases --- Genetic aspects --- Research --- Research --- Prevention.
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Edited by two leading authorities and written by a team of international experts in the field, this book describes the causes, course and treatment of a variety of developmental and genetic disorders, including attention-deficit disorder, fragile X syndrome and the autistic spectrum disorders. There is a particular focus on the course of disorders over time, and outcome in adulthood. Outcome is an area often overlooked in other books about developmental disorders, but is an issue of great importance to parents and carers and one that has important implications for education, health, social and employment services. As well as providing succinct and up-to-date summaries of the most recent research, the authors give clinicians practical guidelines for intervention and management with children and young adults. This book is essential reading for clinicians and psychologists, and anyone working with or caring for children with special educational needs.
Developmental disabilities. --- Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Disabilities --- Developmentally disabled --- Health Sciences --- General and Others
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Genetic disorders. --- Medical genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics --- Genetic aspects --- Genetics, Medical. --- Genetic Diseases, Inborn --- Genetic Predisposition to Disease. --- Génétique médicale --- Maladies héréditaires --- genetics. --- Genetics.
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This is an encyclopedic account of overgrowth syndromes in children who are large at birth or experience excessive postnatal growth or some combination of increased weight, length and head circumference. Many of these syndromes are associated with cancer, which adds to their clinical significance. For each syndrome the authors present a historical perspective and cover epidemiology, causes and molecular biology when known, clinical and pathological features, and diagnosis.
Growth disorders. --- Growth disorders --- Children --- Genetic disorders in children. --- Growth Disorders --- Growth. --- Child. --- Infant --- Medicine --- Health & Biological Sciences --- Infants --- Child development --- Human growth --- Physical anthropology --- Metabolism --- Minors --- Child Development --- Genetic aspects. --- genetics. --- Diseases --- Genetic aspects --- Disorders
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Cystic Fibrosis --- Cystic fibrosis --- Mucoviscidose --- Cystic fibrosis. --- Cystic Fibrosis of Pancreas --- Fibrocystic Disease of Pancreas --- Pancreatic Cystic Fibrosis --- Pulmonary Cystic Fibrosis --- Mucoviscidosis --- Cystic Fibrosis, Pancreatic --- Cystic Fibrosis, Pulmonary --- Fibrosis, Cystic --- Pancreas Fibrocystic Disease --- Pancreas Fibrocystic Diseases --- CF (Disease) --- Fibrocystic disease of pancreas --- Pancreatic cystic fibrosis --- Fibrosis --- Genetic disorders --- Lungs --- Pancreas --- Sweating --- Diseases --- Cystic Fibrosis. --- Mucoviscidose.
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This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis.
Metabolism, Inborn errors of. --- Diagnosis, Differential. --- Differential diagnosis --- Diagnosis --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Disorders --- Metabolism, Inborn Errors --- Laboratory Techniques and Procedures. --- Metabolism, Inborn errors of --- Maladies héréditaires métaboliques --- Diagnostics différentiels --- diagnosis. --- genetics. --- Treatment --- Traitement
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Medical genetics --- Medicine --- Biology --- Biology. --- Medical genetics. --- Medicine. --- Genetics, Medical. --- Molecular Biology. --- Biochemical Genetics --- Biology, Molecular --- Genetics, Biochemical --- Genetics, Molecular --- Molecular Genetics --- Biochemical Genetic --- Genetic, Biochemical --- Genetic, Molecular --- Molecular Genetic --- Human Genetics --- Medical Genetics --- Genetics, Human --- Clinical sciences --- Medical profession --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Genetic Phenomena --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Human genetics --- Genetic disorders --- Biomass --- Life (Biology) --- Natural history --- Health Workforce
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This book continues the story of a new field called molecular medi cine. The first edition appeared 10 years ago in a previous millennium. At that time cloning a gene was cutting edge research; now gene cloning is a high school science fair project. The complete sequencing of the human genome was finished last year; cloning a human is a likely (and very controversial) event for 2002. The tools of molecular medicine have become very powerful and automated; DNA on a chip and microarrays allow us to probe large parts of the genome and its function. The speed of sequencing DNA has increased about 100,0- fold over the decade since the first edition of this book was published. Following the great improvements in technology, DNA and molecular research have a rapidly deepening impact on human medicine. Molec ular therapies including DNA vaccines, antisense, and gene transplan tation are undergoing clinical trials.
Genetics, Medical. --- Hereditary Diseases --- Medical genetics. --- Molecular biology. --- Neoplasms --- Pathology, Molecular. --- genetics. --- Molecular Biology. --- Genetic Diseases, Inborn --- Biochemical Genetics --- Biology, Molecular --- Genetics, Biochemical --- Genetics, Molecular --- Molecular Genetics --- Biochemical Genetic --- Genetic, Biochemical --- Genetic, Molecular --- Molecular Genetic --- Genetic Phenomena --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Medical genetics --- Molecular biology --- Pathology, Molecular --- Genetics, Medical --- Molecular Biology --- Molecular pathology --- Physiology, Pathological --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- genetics --- Genetic aspects --- Internal medicine. --- Surgery. --- Dermatology. --- Pathology. --- Oncology . --- Molecular Medicine. --- Internal Medicine. --- Oncology. --- Tumors --- Disease (Pathology) --- Medicine --- Medicine, Preventive --- Skin --- Surgery, Primitive --- Medicine, Internal
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It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. As a result of these major advances, this well-established series of books has required radical updating. An international group of researchers and clinicians with specialist interests in HD has been commissioned to document the recent advances in our understanding of this disease. Developments in the fields of structural biology, cell biology, neurochemistry and neuropathology, with full coverage of transgenic animal models, are discussed in detail. The clinical sections cover genetic, neurological and psychiatric aspects as well as new developments in therapy.; This book will continue to provide an invaluable source of information for clinicians and scientists involved with Huntington's Disease, including geneticists, psychiatrists and neurologists, and basic science research workers in genetics and neurobiology.
Huntington's disease --- Huntington Disease. --- Medicine --- Health & Biological Sciences --- Neurology --- Akinetic-Rigid Variant of Huntington Disease --- Chorea, Chronic Progressive Hereditary (Huntington) --- Chronic Progressive Hereditary Chorea (Huntington) --- Huntington Chronic Progressive Hereditary Chorea --- Huntington Disease, Akinetic-Rigid Variant --- Huntington Disease, Juvenile --- Huntington Disease, Juvenile-Onset --- Huntington Disease, Late Onset --- Huntington's Chorea --- Huntington's Disease --- Juvenile-Onset Huntington Disease --- Late-Onset Huntington Disease --- Progressive Chorea, Chronic Hereditary (Huntington) --- Progressive Chorea, Hereditary, Chronic (Huntington) --- Huntington Chorea --- Juvenile Huntington Disease --- Akinetic Rigid Variant of Huntington Disease --- Chorea, Huntington --- Chorea, Huntington's --- Huntington Disease, Akinetic Rigid Variant --- Huntington Disease, Juvenile Onset --- Huntington Disease, Late-Onset --- Juvenile Onset Huntington Disease --- Late Onset Huntington Disease --- Chronic progressive chorea --- Chronic progressive hereditary chorea --- Degenerative chorea --- HC (Disease) --- HD (Disease) --- Hereditary chorea --- Huntington chorea --- Huntington chronic progressive hereditary chorea --- Huntington disease --- Huntington's chorea --- Lund-Huntington chorea --- Microcellular striatal syndrome --- Progressive hereditary chorea, Chronic --- Chorea --- Dementia --- Genetic disorders --- Nervous system --- Degeneration --- Huntington's chorea.
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