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Rosenberg's molecular and genetic basis of neurological and psychiatric disease.
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ISBN: 9780128139561 0128139560 0128139552 9780128139554 Year: 2020 Publisher: London, England : Academic Press,


Book
Emery and Rimoin's principles and practice of medical genetics
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ISBN: 0123838355 0123838347 9780123838353 9780123838346 Year: 2013 Publisher: [New York : Academic Press,

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Abstract

In the three decades that have elapsed since the first edition of this book was published, the field of medical genetics has experienced explosive growth. The rate of change in the science and application of medical genetics that occurred in the period spanning the first through the fifth editions of this book has markedly accelerated. In the 1980s, genetics was viewed by most practitioners as an important but obscure corner of medicine. Now it is widely recognized that virtually all human disorders have a genetic component, and genetics is viewed as the key basic science in uncovering the mysteries of disease pathogenesis.


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Transgenerational epigenetics
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ISBN: 0128167335 0128163631 9780128167335 9780128163634 Year: 2019 Publisher: London : Academic Press, an imprint of Elsevier,

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Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research. -- Publisher.


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Genomics of rare diseases : understanding rare disease genetics through genomic approaches
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ISBN: 0128201401 0128204362 9780128204368 9780128201404 Year: 2021 Publisher: Amsterdam, Netherlands : Academic Press,

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"Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism"--


Book
Emery and Rimoin's principles and practice of medical genetics and genomics.
Authors: --- ---
ISBN: 9780128126806 0128126809 9780128125328 0128125322 Year: 2019 Publisher: London, England : Academic Press,


Book
Mendelian inheritance in man : catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
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ISBN: 0801833965 Year: 1986 Publisher: Baltimore, MD ; London : Johns Hopkins University Press,

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Book
Mendelian inheritance in man : catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes
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ISBN: 0801836913 9780801836916 Year: 1988 Publisher: Baltimore, MD ; London : Johns Hopkins University Press,

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Keywords

Human genetics --- Medical genetics --- Human chromosomes --- Hereditary Diseases --- Phenotype --- Génétique médicale --- Chromosomes humains --- Bibliography --- Dictionaries --- bibliography --- encyclopedias --- Bibliographie --- Dictionnaires --- Hereditary diseases --- Genetics --- Genetics, Medical. --- Genetic Diseases, Inborn. --- Phenotype. --- -Medical genetics --- -Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Chromosomes --- Phenotypes --- Gene Expression --- Human Genetics --- Medical Genetics --- Genetics, Human --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetics, Medical --- Genetic aspects --- Bibliography. --- Dictionaries. --- -Bibliography --- Génétique médicale --- bibliography. --- encyclopedias. --- Clinical genetics --- Phenomics --- Hereditary diseases - bibliography --- Hereditary diseases - encyclopedias --- Genetics - Bibliography --- Genetics - encyclopedias --- Medical genetics - Bibliography --- Medical genetics - Dictionaries --- Human chromosomes - Bibliography

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