Information-Theoretic Evaluation for Computational Biomedical Ontologies

Information-Theoretic Evaluation for Computational Biomedical Ontologies-1

Wyatt Travis Clark 2014 The development of effective methods for the prediction of ontological annotations is an important goal in computational biology, with protein function prediction and disease gene prioritization gaining wide recognition. While various algorithms have been proposed for these tasks, evaluating their performance is difficult due to problems caused both by the structure […]

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Inherited Chorioretinal Dystrophies

Inherited Chorioretinal Dystrophies-1

Bernard Puech • Jean-Jacques De Laey Graham E. Holder Editors 2014 A Textbook and Atlas Ophthalmogenetics and especially hereditary fundus disorders have become increasingly important not only for ophthalmologists and geneticists but also for other specialities such as dermatology, neurology, internal medicine, and otorhinolaryngology, and especially for the patients and their families.  

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Neurodegenerative Diseases

Neurodegenerative Diseases-1

Daniela Galimberti • Elio Scarpini Editors 2014 Clinical Aspects, Molecular Genetics and Biomarkers More than a century ago, Alois Alzheimer and Gaetano Perusini described the intriguing case of a 51-year-old severely demented woman. They argued that specific changes in the brain (senile plaques and neurofibrillary tangles) were responsible for neuronal loss and dementia.

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Clinical Neuroembryology

Clinical Neuroembryology-1

Hans J. ten Donkelaar • Martin Lammens Akira Hori 2014 Development and Developmental Disorders of the Human Central Nervous System Apart from a general updating of the extensive literature on developmental neurobiology, neurogenetics, imaging and developmental neuropathology between 2005 and 2013, more emphasis has been given to: (a) imaging of the embryonic brain (early prenatal […]

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Chorea

Chorea-1

Federico E. Micheli • Peter A. LeWitt Editors 2014 Causes and Management Within the broad categories of neurologic diseases, the abnormal movement chorea (from Greek, choros , and from the Latin, choreus , both meaning dance) belongs among the conditions referred to as movement disorders. The field of movement disorders consists of both hypokinetic and […]

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Mosaicism in Human Skin

Mosaicism in Human Skin-1

Rudolf Happle 2014 Understanding Nevi, Nevoid Skin Disorders, and Cutaneous Neoplasia During my training in dermatology in the years 1968 through 1972, I had seen some linear skin lesions but never heard or read of Alfred Blaschko since, among dermatologists, his lines had fallen into oblivion. Shortly thereafter, when I worked at the University of […]

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Handbook of Pediatric Autopsy Pathology

Handbook of Pediatric Autopsy Pathology-1

Enid Gilbert-Barness • Diane E. Spicer Thora S. Steffensen 2014 The first edition of this text was published in 2005, and at that time was written with the explicit aim to fill a void in pediatric autopsy pathology. The autopsy still remains of paramount importance for accurate diagnoses, genetic counseling, and for the definitive diagnosis […]

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Omics Approaches in Breast Cancer

Omics Approaches in Breast Cancer-1

Debmalya Barh Editor 2014 Towards Next-Generation Diagnosis, Prognosis and Therapy Breast cancer is the leading cause of cancer specific deaths in women worldwide. Screening and early diagnosis provides better patient management, improves treatment efficacy, and reduce mortality. With the advent of nextgeneration “omics” technologies; several early markers, novel targets, and personalized targeted therapeutics are now […]

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