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


Book
Emery and Rimoin's principles and practice of medical genetics
Authors: --- ---
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.


Book
Transgenerational epigenetics
Author:
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.


Book
Genomics of rare diseases : understanding rare disease genetics through genomic approaches
Authors: ---
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,


Periodical
Human genome variation.
Author:
ISSN: 2054345X Year: 2014 Publisher: [London] : Nature Publishing Group,

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Periodical
Molecular syndromology.
ISSN: 16618777 Year: 2010 Publisher: Basel : S. Karger

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Keywords

Molecular genetics --- Genetics --- Molecular biology --- Molecular Biology. --- Genetic Diseases, Inborn. --- Genetic Phenomena. --- Genetics. --- Molecular biology. --- Molecular genetics. --- Erbkrankheit --- Molekulargenetik --- Erbkrankheit. --- Molekulargenetik. --- Molekulare Genetik --- Biochemische Genetik --- Molecular biochemistry --- Molecular biophysics --- Genetic Concepts --- Genetic Phenomenon --- Genetic Process --- Genetic Processes --- Concept, Genetic --- Concepts, Genetic --- Genetic Concept --- Phenomena, Genetic --- Phenomenon, Genetic --- Process, Genetic --- Processes, Genetic --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- 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 --- Genetische Krankheit --- Heredopathie --- Genetisch bedingte Krankheit --- Genetisches Syndrom --- Erbkrankheiten --- Biochemical Genetics --- Biology, Molecular --- Genetics, Biochemical --- Genetics, Molecular --- Molecular Genetics --- Biochemical Genetic --- Genetic, Biochemical --- Genetic, Molecular --- Molecular Genetic --- Genetik --- Molekularbiologie --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Molecular Biology --- Genetics, Medical --- Angeborene Krankheit --- Genetic Phenomena

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