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  • thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics  (133)
  • thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology  (101)
  • Chemistry
  • GEOPHYSICS
  • IntechOpen  (255)
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  • 1
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    IntechOpen | IntechOpen
    Publication Date: 2024-04-01
    Description: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a major monogenic neurocutaneous disorder. The NF1 gene encodes the protein neurofibromin whose dysfunction promotes tumorigenesis in central and peripheral neuronal tissues. In addition to inducing the formation of cutaneous pigmented lesions or neurofibromas, NF1 affects multiple organ systems, resulting in neurological and psychiatric disorders, orthopedic conditions, and impaired endocrine functions. This book examines the fundamental, clinical, and basic aspects of NF1 over three sections and nine chapters. Topics addressed include bone lesions in children with NF1, diffuse neurofibromatous tissue, seizures in adults with NF1, Ras-GAP function of neurofibromin, endocrine disorders characteristic of NF1, and more.
    Keywords: Neurology & clinical neurophysiology ; thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology
    Language: English
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  • 2
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    IntechOpen | IntechOpen
    Publication Date: 2024-03-31
    Description: The aim of this book is to cover key aspects of existing problems in the field of development and future perspectives in gene therapy. Contributions consist of basic and translational research, as well as clinical experiences, and they outline functional mechanisms, predictive approaches, patient-related studies and upcoming challenges in this stimulating but also controversial field of gene therapy research. This source will make our doctors become comfortable with the common problems of gene therapy and inspire others to delve a bit more deeply into a topic of interest.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 3
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    IntechOpen | IntechOpen
    Publication Date: 2024-04-01
    Description: Epilepsy During the Lifespan - Beyond the Diagnosis and New Perspectives discusses the most widespread neurological pathology in the world. The book presents interesting contributions to controversial topics in epilepsy. It includes nine chapters organized into three sections: “New and Old Perspectives on Epilepsy”, “Epileptic Syndromes” and “Society and Epilepsy”.
    Keywords: thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology
    Language: English
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  • 4
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    IntechOpen | IntechOpen
    Publication Date: 2024-03-31
    Description: Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 5
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    IntechOpen | IntechOpen
    Publication Date: 2024-04-01
    Description: Cerebral and Cerebellar Cortex – Interaction and Dynamics in Health and Disease discusses several important issues of cerebro-cerebellar collaboration and interactions. The morphological and functional study of the cerebral and cerebellar cortices and their interaction has considerable value for interpreting the clinical phenomenology of cortical degenerations in the initial stage of the disease. In addition, the analysis of cerebro-cerebellar interactions strongly supports the concept of the close functional unity and harmonization of the brain and the cerebellum, underlining the important role that the cerebellar cortex plays in the performance of higher mental faculties, creativity, emotional processes, and homeostatic equilibrium of the human body.
    Keywords: alzheimer’s disease, mitochondria, stroke, neurodegeneration, neuroplasticity, cerebellum ; thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology
    Language: English
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  • 6
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    IntechOpen | IntechOpen
    Publication Date: 2024-04-01
    Description: This book highlights the pathophysiological complexities of the mechanisms and factors that are likely to be involved in a range of neuroinflammatory and neurodegenerative diseases including Alzheimer's disease, other Dementia, Parkinson Diseases and Multiple Sclerosis. The spectrum of diverse factors involved in neurodegeneration, such as protein aggregation, oxidative stress, caspases and secretase, regulators, cholesterol, zinc, microglia, astrocytes, oligodendrocytes, etc, have been discussed in the context of disease progression. In addition, novel approaches to therapeutic interventions have also been presented. It is hoped that students, scientists and clinicians shall find this very informative book immensely useful and thought-provoking.
    Keywords: Neurology & clinical neurophysiology ; thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology
    Language: English
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  • 7
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    IntechOpen | IntechOpen
    Publication Date: 2024-04-05
    Description: Mineralogy includes thirteen chapters that discuss the methodology of specific mineralogical methods, the composition of minerals from different igneous rocks, and the composition of minerals from different sedimentary rocks.It contains detailed mineralogical studies from Africa, Asia, and Europe. Chapters present different scientific mineralogical methods and detailed descriptions of minerals from different magmatic and sedimentary rocks.
    Keywords: Chemistry ; thema EDItEUR::P Mathematics and Science::PN Chemistry::PNV Chemistry of minerals, crystals and gems
    Language: English
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  • 8
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    IntechOpen | IntechOpen
    Publication Date: 2024-04-05
    Description: Benzimidazole is a comprehensive survey of the known and new methods of benzimidazole synthesis, the spectral and theoretical aspects of existing benzimidazole derivatives, and the anticancer properties of a new class of benzimidazole derivatives. This book examines aspects and newer mechanisms of benzimidazoles containing heterocyclic moiety. Chapters report on anticancer properties of benzimidazole derivatives, novel methods of synthesis of benzimidazoles, versatile nature of the benzimidazoles, spectral and theoretical studies of benzimidazole derivatives, and medicinal importance and pharmacological aspects of benzimidazole derivatives.
    Keywords: Chemistry ; thema EDItEUR::P Mathematics and Science::PN Chemistry::PNN Organic chemistry
    Language: English
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  • 9
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    IntechOpen | IntechOpen
    Publication Date: 2024-03-31
    Description: "Flow Cytometry - Recent Perspectives" is a compendium of comprehensive reviews and original scientific papers. The contents illustrate the constantly evolving application of flow cytometry to a multitude of scientific fields and technologies as well as its broad use as demonstrated by the international composition of the contributing author group. The book focuses on the utilization of the technology in basic sciences and covers such diverse areas as marine and plant biology, microbiology, immunology, and biotechnology. It is hoped that it will give novices a valuable introduction to the field, but will also provide experienced flow cytometrists with novel insights and a better understanding of the subject.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 10
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    IntechOpen | IntechOpen
    Publication Date: 2024-04-01
    Description: Intellectual and Developmental Disabilities presents reports on a wide range of areas in the field of neurological and intellectual disability, including habitual human quadrupedal locomotion with associated cognitive disabilities, Fragile X syndrome, autism spectrum disorders, Down syndrome, and intellectual developmental disability among children in an African setting. Studies are presented from researchers around the world, looking at aspects as wide-ranging as the genetics behind the conditions to new and innovative therapeutic approaches.
    Keywords: Neurology & clinical neurophysiology ; thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology
    Language: English
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