Practical Guide To Neurogenetics E Book

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Practical Guide To Neurogenetics E Book
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Author : Thomas T. Warner
language : en
Publisher: Elsevier Health Sciences
Release Date : 2008-11-04
Practical Guide To Neurogenetics E Book written by Thomas T. Warner and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-11-04 with Medical categories.
This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.
Swaiman S Pediatric Neurology E Book
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Author : Stephen Ashwal
language : en
Publisher: Elsevier Health Sciences
Release Date : 2025-05-09
Swaiman S Pediatric Neurology E Book written by Stephen Ashwal and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2025-05-09 with Medical categories.
**Selected for 2025 Doody's Core Titles® in Pediatrics and with "Essential Purchase" designation in Neurology**For fifty years, experienced clinicians and physicians in training have relied on Swaiman's cornerstone text as their #1 source for authoritative guidance in pediatric neurology. Swaiman's Pediatric Neurology: Principles and Practice, Seventh Edition, continues this tradition of excellence under the expert editorial direction of Drs. Stephen Ashwal and Phillip L. Pearl, along with a team of key leaders in the field who serve as associate and section editors in their areas of expertise. Thorough revisions—including new chapters, new videos, new editors, and expanded content—bring you up to date with this dynamic field. - Contains new sections on global child neurology and environment and brain development and a greatly expanded section on neurogenetics, in addition to new chapters on autoimmune epilepsies, immune-mediated movement disorders, and more. - Offers expanded online content, including additional figures, tables, and text, as well as new personal introductory videos by many chapter authors. - Covers new, emerging, or controversial topics such as COVID-19, teleneurology, environment and brain development, immune-mediated disorders of the nervous system, functional neurological disorders in children, nonverbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities. - Provides authoritative coverage of perinatal acquired and congenital disorders, neurodevelopmental disabilities, extensive sections on pediatric epilepsy and movement disorders, nonepileptiform paroxysmal disorders, and disorders of sleep. - Features nearly 3,000 line drawings, photographs, tables, and boxes that highlight the text, clarify key concepts, and make it easy to find information quickly.
Neurogenetics For The Practitioner
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Author : Gregory M. Pastores
language : en
Publisher: Elsevier
Release Date : 2024-04-24
Neurogenetics For The Practitioner written by Gregory M. Pastores and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-04-24 with Medical categories.
Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. - Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis - Explores various therapeutic strategies based on genetic interventions - Discusses when a neurologic problem may have an underlying genetic cause
Neurogenetics
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Author : Nicholas Wood
language : en
Publisher: Cambridge University Press
Release Date : 2012-04-12
Neurogenetics written by Nicholas Wood and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-04-12 with Medical categories.
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Muscle Biopsy E Book
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Author : Victor Dubowitz
language : en
Publisher: Elsevier Health Sciences
Release Date : 2013-02-08
Muscle Biopsy E Book written by Victor Dubowitz and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-02-08 with Medical categories.
Muscle Biopsy: A Practical Approach gives you all of the unparalleled guidance necessary to effectively interpret and diagnose muscle biopsy specimens for the full range of diseases in both adults and children. Authored by Dr. Victor Dubowitz, an internationally renowned figure in the field of muscle disease, this medical reference book takes an integrated approach to diagnosis and assessment of muscle biopsies that includes clinical, genetic, biochemical, and pathological features. It's the comprehensive, up-to-date coverage you need to evaluate muscle disorders with confidence. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Bridge the gap between clinical syndromes/disorders and their underlying pathologies with the guidance of muscle disease expert, Dr. Victor Dubowitz, who skillfully guides you through the complexities of pathologic diagnoses and their implications for clinical treatment. Understand and apply expert techniques for obtaining a muscle biopsy, and familiarize yourself with the histochemical, histological, electron microscopical, and molecular appearance of normal muscle and the pathology of individual muscle disease. Apply all of the latest diagnostic techniques for neurodegenerative and genetic diseases with a brand-new chapter on myopathies associated with systemic disorders and aging, and use advanced techniques such as immunohistochemistry and immunoblotting to produce the most accurate diagnoses possible for a full range of muscle disorders. Stay current in practice with state-of-the-art coverage of genetic markers for individual conditions and antibodies used in immunocytochemical diagnosis. Understand the genetics of muscular dystrophies with absolute clarity through the use of brilliantly simple diagrams and tables, and compare your specimens to a wealth of superb color images capturing the full spectrum of muscle biopsy findings. Take advantage of international insights and fresh perspectives in muscle diseases and disorders from new author Dr. Anders Oldfors, from the Department of Pathology, University of Goteborg, Sweden.
Bradley And Daroff S Neurology In Clinical Practice E Book
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Author : Joseph Jankovic
language : en
Publisher: Elsevier Health Sciences
Release Date : 2021-03-23
Bradley And Daroff S Neurology In Clinical Practice E Book written by Joseph Jankovic and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-03-23 with Medical categories.
A practical, dynamic resource for practicing neurologists, clinicians and trainees, Bradley and Daroff's Neurology in Clinical Practice, Eighth Edition, offers a straightforward style, evidence-based information, and robust interactive content supplemented by treatment algorithms and images to keep you up to date with all that's current in this fast-changing field. This two-volume set is ideal for daily reference, featuring a unique organization by presenting symptom/sign and by specific disease entities—allowing you to access content in ways that mirror how you practice. More than 150 expert contributors, led by Drs. Joseph Jankovic, John C. Mazziotta, Scott L. Pomeroy, and Nancy J. Newman, provide up-to-date guidance that equips you to effectively diagnose and manage the full range of neurological disorders. - Covers all aspects of today's neurology in an easy-to-read, clinically relevant manner. - Allows for easy searches through an intuitive organization by both symptom and grouping of diseases. - Features new and expanded content on movement disorders, genetic and immunologic disorders, tropical neurology, neuro-ophthalmology and neuro-otology, palliative care, pediatric neurology, and new and emerging therapies. - Offers even more detailed videos that depict how neurological disorders manifest, including EEG and seizures, deep brain stimulation for PD and tremor, sleep disorders, movement disorders, ocular oscillations, EMG evaluation, cranial neuropathies, and disorders of upper and lower motor neurons, as well as other neurologic signs. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Oxford Desk Reference Clinical Genetics And Genomics
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Author : Helen V. Firth
language : en
Publisher: Oxford University Press
Release Date : 2017-09-08
Oxford Desk Reference Clinical Genetics And Genomics written by Helen V. Firth and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-08 with Medical categories.
A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.
Youmans And Winn Neurological Surgery E Book
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Author : H. Richard Winn
language : en
Publisher: Elsevier Health Sciences
Release Date : 2022-01-21
Youmans And Winn Neurological Surgery E Book written by H. Richard Winn and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-01-21 with Medical categories.
Widely regarded as the definitive reference in the field, Youmans and Winn Neurological Surgery offers unparalleled, multimedia coverage of the entirety of this complex specialty. Fully updated to reflect recent advances in the basic and clinical neurosciences, the 8th Edition covers everything you need to know about functional and restorative neurosurgery, deep brain stimulation, stem cell biology, radiological and nuclear imaging, and neuro-oncology, as well as minimally invasive surgeries in spine and peripheral nerve surgery, and endoscopic and other approaches for cranial procedures and cerebrovascular diseases. In four comprehensive volumes, Dr. H. Richard Winn and his expert team of editors and authors provide updated content, a significantly expanded video library, and hundreds of new video lectures that help you master new procedures, new technologies, and essential anatomic knowledge in neurosurgery. - Discusses current topics such as diffusion tensor imaging, brain and spine robotic surgery, augmented reality as an aid in neurosurgery, AI and big data in neurosurgery, and neuroimaging in stereotactic functional neurosurgery. - 55 new chapters provide cutting-edge information on Surgical Anatomy of the Spine, Precision Medicine in Neurosurgery, The Geriatric Patient, Neuroanesthesia During Pregnancy, Laser Interstitial Thermal Therapy for Epilepsy, Fetal Surgery for Myelomeningocele, Rehabilitation of Acute Spinal Cord Injury, Surgical Considerations for Patients with Polytrauma, Endovascular Approaches to Intracranial Aneurysms, and much more. - Hundreds of all-new video lectures clarify key concepts in techniques, cases, and surgical management and evaluation. Notable lecture videos include multiple videos on Thalamotomy for Focal Hand Dystonia and a video to accompany a new chapter on the Basic Science of Brain Metastases. - An extensive video library contains stunning anatomy videos and videos demonstrating intraoperative procedures with more than 800 videos in all. - Each clinical section contains chapters on technology specific to a clinical area. - Each section contains a chapter providing an overview from experienced Section Editors, including a report on ongoing controversies within that subspecialty. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Swaiman S Pediatric Neurology E Book
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Author : Kenneth F. Swaiman
language : en
Publisher: Elsevier Health Sciences
Release Date : 2017-03-16
Swaiman S Pediatric Neurology E Book written by Kenneth F. Swaiman and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-16 with Medical categories.
Since 1975, Dr. Kenneth Swaiman's classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that's new in the field. Five new sections, 62 new chapters, 4 new editors, and a reconfigured format make this a comprehensive and clearly-written resource for the experienced clinician as well as the physician-in-training. - Nearly 3,000 line drawings, photographs, tables, and boxes highlight the text, clarify key concepts, and make it easy to find information quickly.
Practical Genetic Counselling
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Author : Peter Harper
language : en
Publisher: CRC Press
Release Date : 2010-08-27
Practical Genetic Counselling written by Peter Harper and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-08-27 with Medical categories.
Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical