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Practical Guide To Neurogenetics

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Practical Guide to Neurogenetics E Book

Practical Guide to Neurogenetics E Book Book
Author : Thomas T. Warner,Simon R. Hammans
Publisher : Elsevier Health Sciences
Release : 2008-11-04
ISBN : 0702038458
Language : En, Es, Fr & De

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Book Description :

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.

Neurogenetics

Neurogenetics Book
Author : Anonim
Publisher : Elsevier
Release : 2018-01-08
ISBN : 0444632352
Language : En, Es, Fr & De

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Book Description :

Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. Presents a comprehensive coverage of neurogenetics Details the latest science and impact on our understanding of neurological psychiatric disorders Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Neurogenetics

Neurogenetics Book
Author : Stefan-M. Pulst
Publisher : Contemporary Neurology
Release : 2000
ISBN : 9780195129755
Language : En, Es, Fr & De

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Book Description :

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Book
Author : Helen V. Firth,Jane A. Hurst
Publisher : Oxford University Press
Release : 2017-09-08
ISBN : 0192519824
Language : En, Es, Fr & De

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Book Description :

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.

The Practical Guide to the Genetic Family History

The Practical Guide to the Genetic Family History Book
Author : Robin L. Bennett
Publisher : John Wiley & Sons
Release : 2011-09-20
ISBN : 1118209818
Language : En, Es, Fr & De

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Book Description :

HELPS YOU DEVELOP AND ASSESS PEDIGREES TO MAKE DIAGNOSES, EVALUATE RISK, AND COUNSEL PATIENTS The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients. Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including: Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-family history for specific disease conditions Use of pedigrees to identify individuals with an increased susceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors are involved Ethical issues that may arise in recording a pedigree Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved. This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.

Neurodegeneration

Neurodegeneration Book
Author : Anthony Schapira,Zbigniew K. Wszolek,Ted M. Dawson,Nicholas Wood
Publisher : John Wiley & Sons
Release : 2017-02-08
ISBN : 1118661923
Language : En, Es, Fr & De

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Book Description :

This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors

Neurogenetics in Neurology From Molecular Neuroscience to Precision Medicine

Neurogenetics in Neurology  From Molecular Neuroscience to Precision Medicine Book
Author : Matthew James Farrer,Guy Rouleau
Publisher : Frontiers Media SA
Release : 2020-12-22
ISBN : 2889662519
Language : En, Es, Fr & De

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Book Description :

Download Neurogenetics in Neurology From Molecular Neuroscience to Precision Medicine book written by Matthew James Farrer,Guy Rouleau, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Neurogenetics

Neurogenetics Book
Author : Nicholas Wood
Publisher : Cambridge University Press
Release : 2012-04-12
ISBN : 052154372X
Language : En, Es, Fr & De

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Book Description :

A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

A Practical Guide to Human Cancer Genetics

A Practical Guide to Human Cancer Genetics Book
Author : Shirley V. Hodgson,William D. Foulkes,Charis Eng,Eamonn R. Maher
Publisher : Springer Science & Business Media
Release : 2013-11-22
ISBN : 1447123751
Language : En, Es, Fr & De

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Book Description :

This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.

Enjoy Your Science Meeting A Practical Guide To Getting The Most Out Of Attending Scientific Conferences

Enjoy Your Science Meeting   A Practical Guide To Getting The Most Out Of Attending Scientific Conferences Book
Author : Elizabeth M Fisher,Richard C Thompson
Publisher : World Scientific
Release : 2019-09-16
ISBN : 1786347245
Language : En, Es, Fr & De

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Book Description :

The book provides a practical and readable guide to getting the most out of attending a scientific conference. The topics covered include writing an abstract, preparing and presenting a poster or talk, chairing a session, making good use of poster and oral sessions, and networking. Also included is practical advice on registering for a conference and planning travel. Aimed primarily at PhD students who are attending their first conference, it is also relevant to junior postdoctoral scientists.Different types of scientific conferences are discussed, together with their distinct roles in the development of a scientific career. After reading this book, a student or postdoc will be in a better position to make an effective presentation of their work at a conference and to achieve the maximum benefit from attending the conference, including promoting their work, learning about the latest developments and getting to know the key players in their field.

Practical Guide in Andrology and Embryology

Practical Guide in Andrology and Embryology Book
Author : Gita Ganguly Mukherjee,Gautam Khastgir,Ratna Chattopadhyay
Publisher : Jaypee Brothers Medical Publishers
Release : 2018-04-30
ISBN : 9352704851
Language : En, Es, Fr & De

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Book Description :

Part of a new series on reproductive medicine, this book is a complete guide to andrology and embryology. Divided into 38 chapters, the text begins with in depth discussion on male infertility covering sperm function tests, screening, sperm selection for ART, sperm banking, and various causes of male infertility. The second part of the book examines assisted reproductive techniques in male infertility, frozen embryo transfer, oocyte and embryo cryopreservation, third party reproduction, and more. The book presents the latest advances in the field and each chapter includes key points and references for further reading. Clinical photographs, diagrams and tables further enhance the comprehensive text. Other titles in the series include: Practical Guide in Infertility, Practical Guide in Reproductive Surgery and Practical Guide in Assisted Reproductive Technology. Key points Comprehensive guide to andrology and embryology Part of new series on reproductive medicine Covers numerous ART procedures for male infertility Chapters include key points and detailed references for further reading

Neurogenetic Developmental Disorders

Neurogenetic Developmental Disorders Book
Author : Michèle M. M. Mazzocco,Judith L. Ross
Publisher : MIT Press
Release : 2007
ISBN : 0262134802
Language : En, Es, Fr & De

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Book Description :

A reference to guide clinicians, researchers, teachers, and parents in identifying arange of genetic disorders despite widely variable cognitive, behavioral, and physicaleffects.

Handbook of Parkinson s Disease

Handbook of Parkinson s Disease Book
Author : Rajesh Pahwa,Kelly E. Lyons
Publisher : CRC Press
Release : 2007-03-23
ISBN : 1420019996
Language : En, Es, Fr & De

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Book Description :

This blue-ribbon guide has long prevailed as one of the leading resources on Parkinson's Disease (PD). Fully updated with practical and engaging chapters on pathology, neurochemistry, etiology, and breakthrough research, this source spans every essential topic related to the identification, assessment, and treatment of PD. Reflecting the many advan

Forthcoming Books

Forthcoming Books Book
Author : Rose Arny
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Forthcoming Books book written by Rose Arny, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Neurogenetics of Psychiatric Disorders

Neurogenetics of Psychiatric Disorders Book
Author : Akira Sawa,Melvin G. McInnis
Publisher : CRC Press
Release : 2007-05-11
ISBN : 1420019546
Language : En, Es, Fr & De

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Book Description :

Translating bench-based research into effective clinical practice, this source provides a clear understanding of the neurobiology and neurogenetics of psychiatric disorders, the genes responsible for specific psychiatric disorders, and the implications of genetic roots and underlying biology on the development of new diagnostic approaches and treat

Practical Genetic Counselling

Practical Genetic Counselling Book
Author : Peter Harper
Publisher : CRC Press
Release : 2010-08-27
ISBN : 1444128590
Language : En, Es, Fr & De

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Book Description :

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

The British National Bibliography

The British National Bibliography Book
Author : Arthur James Wells
Publisher : Unknown
Release : 2009
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download The British National Bibliography book written by Arthur James Wells, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Human Genetics and Genomics

Human Genetics and Genomics Book
Author : Bahar Taneri,Esra Asilmaz,Türem Delikurt,Pembe Savas,Seniye Targen,Yagmur Esemen
Publisher : John Wiley & Sons
Release : 2020-02-12
ISBN : 3527682651
Language : En, Es, Fr & De

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Book Description :

Finally meeting the need for a laboratory manual on human genetics, this practical guide is the perfect companion title to all major standard textbooks on the subject. The authors all have a high-level research background and are actively involved in teaching and counseling. Based on a standard curriculum in human genetics, each chapter equals one practical unit of the course and topics range from basics in human inheritance to genetics in major disease clusters and from bioinformatics and personalized medicine to genetic counseling.

A Z of Neurological Practice

A Z of Neurological Practice Book
Author : Andrew J. Larner,Alasdair J Coles,Neil J. Scolding,Roger A Barker
Publisher : Springer Science & Business Media
Release : 2011-01-19
ISBN : 1848829949
Language : En, Es, Fr & De

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Book Description :

The Second Edition of A-Z of Neurological Practice builds on the previous edition with revised and updated information in a high density but easily accessible format to provide a quick and ready reference for busy clinicians of all degrees of experience. Entries for specific neurological conditions are uniformly structured indicating: Pathophysiology; Clinical Features; Investigations and Diagnosis; Differential Diagnosis; Treatment and Prognosis. Key references are cited throughout and all entries are cross referenced. A-Z of Neurological Practice, Second Edition is a practical, authoritative guide that will become an invaluable resource for neurologists in clinical practice, neurology trainees and all those involved with the treatment of neurological disorders.

Pediatric Neuro Ophthalmology

Pediatric Neuro Ophthalmology Book
Author : Michael C. Brodsky
Publisher : Springer
Release : 2016-06-28
ISBN : 1493933841
Language : En, Es, Fr & De

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Book Description :

Pediatric Neuro-Ophthalmology, 3rd edition provides the single authoritative resource on the pathophysiology, diagnostic evaluation, and treatment of neuro-ophthalmologic disorders in children. This book is encyclopedic in scope, incorporating extensive references for each condition, numerous diagrams and pictures, and a detailed analysis of the clinical disorders included in the differential diagnosis of each condition. The third edition builds upon this format to incorporate new discoveries about mechanisms of disease, new diagnostic modalities, advances in treatment in the field of pediatric neuro-ophthalmology, and updated neuroimaging figures. ​