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Genetics And Neurology

Author: Sarah Bundey
Publisher: Elsevier
ISBN: 1483281019
Size: 80.49 MB
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Genetics and Neurology focuses on disorders that affect the nervous system, including atrophies, neuropathies, and tumors. The book first examines malformations of the central nervous system, phacomatoses and tumors, and cerebral degenerative disorders of childhood. Topics include malformations of the corpus callosum and neighboring structures; abnormalities of closure of neural tube; spongiform leucodystrophy; and tumors of the nervous system. The text then takes a look at extrapyramidal disorders and dyskinesias and muscle disorders. The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. Discussions focus on hereditary motor and sensory neuropathies of infancy and early childhood; peripheral neuropathies and lipid disorders; and congenital cerebellar ataxias. The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.

Molekulare Humangenetik

Author: Tom Strachan
Publisher: Spektrum Akademischer Verlag
ISBN: 9783827414939
Size: 34.57 MB
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Die vorliegende 3. Auflage der Molekularen Humangenetik ist völlig neu überarbeitet - unter Berücksichtigung der Entdeckungen, die im Zuge und in der Folge des Human Genome Project gemacht wurden. Die einführenden Kapitel (Teil I) beschreiben die Grundlagen wie DNA-Struktur und -Funktion, Chromosomen, Zellen und Entwicklung, Stammbaumanalysen und grundlegende Techniken im Labor. In Teil II werden die verschiedenen Genomsequenzierungsprojekte und die dadurch ermöglichten Einblicke in Organisation, Expression, Variabilität und Evolution des menschlichen Genoms gezeigt. Die Kartierung, Identifizierung und Diagnose der Ursachen von mendelnden und komplexen Krankheiten sowie Krebs ist Schwerpunkt von Teil III. Der letzte Teil gibt Ausblicke auf die funktionelle Genomik und Bioinformatik, auf Tiermodelle und Therapien. Das Buch soll eine Brücke bilden zwischen den grundlegenden Lehrbüchern und der Forschungsliteratur, sodass auch Interessierte mit relativ wenig Hintergrundwissen zum Thema die neuesten Forschungsergebnisse lesen und beurteilen können.

Thompson Thompson Genetics In Medicine E Book

Author: Robert L. Nussbaum
Publisher: Elsevier Health Sciences
ISBN: 1437700934
Size: 50.42 MB
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Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.

Victor Mckusick And The History Of Medical Genetics

Author: Krishna R. Dronamraju
Publisher: Springer Science & Business Media
ISBN: 1461416779
Size: 23.79 MB
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This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.

Genetics For Surgeons

Author: Patrick John Morrison
Publisher: Remedica
ISBN: 1901346692
Size: 70.93 MB
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Annotation Surgeons, medical geneticists, genetics counselors Review of leading medical and surgical journals shows that the most frequent area of publication is papers with a genetic or molecular biology component. Some of these papers will involve childhood or prenatal diagnostic issues, while an increasing proportion involve adult-onset single disorders such as neurological disease or familial cancers. In the future, complex multifactorial for polygenicl diseases such as cardiovascular and respiratory diseases will become more prevalent, and already the ethical issues involved are complex and widely discussed. Surgeons need to know about genetics and how it interacts with modern surgical practice. Inherited diseases contribute to a substantial proportion of the surgical workload. Recognition of a positive history of disease in a family will allow genetic testing and precise diagnosis, leading to the ability to presymptomatically screen at-risk members of a family and allow screening and prevention strategies to be implemented.

Kinn S The Medical Assistant E Book

Author: Deborah B. Proctor
Publisher: Elsevier Health Sciences
ISBN: 0323187811
Size: 26.46 MB
Format: PDF, Kindle
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Prepare for a successful career in medical assisting! Kinn’s The Medical Assistant, 12th Edition helps you learn the real-world administrative and clinical skills essential to working in the health care setting. Administrative coverage ranges from professionalism and interpersonal skills to billing and coding and electronic health records; clinical content teaches how to assist with medications, diagnostic procedures, and surgeries. And no other comprehensive medical assisting text can match its coverage of assisting with medical specialties! Written by medical assisting experts Alexandra Adams and Deborah Proctor, this classic resource also includes an Evolve companion website with practical exercises and activities, videos, and review questions for the CMA and RMA certification exams. More chapters on assisting with medical specialties than any other Medical Assisting text prepare you to assist in specialty exams and make you better qualified to work in specialty fields like cardiology, dermatology, ophthalmology, gynecology, and neurology. Step-by-step, illustrated procedures make it easier to learn and understand medical assisting skills, and include rationales for each step. Threaded case scenarios help you develop critical thinking skills and apply concepts to realistic administrative and clinical situations. Patient education and legal and ethical issues are described in relation to the Medical Assistant's job. A Portfolio Builder on the Evolve website helps you demonstrate proficiency to potential employers. Detailed learning objectives and vocabulary with definitions in each chapter help you study more effectively, with connections icons linking concepts in the text to exercises in the study guide and on the Evolve companion website. Study Guide includes a variety of exercises to test your knowledge and critical thinking skills, case scenarios from the book, and a Procedure Checklists Manual. Sold separately. NEW! Charting examples within the procedures are highlighted for easier learning. UPDATED coverage of the Electronic Health Record ensures that you are familiar with the technology you'll use on the job. UPDATED content on alternative therapies and treatment includes the latest herbal remedies such as red rice yeast for lowering cholesterol, St. John’s Wort for depression, and probiotic bacteria for GI maladies.

Practical Guide To Neurogenetics E Book

Author: Thomas T. Warner
Publisher: Elsevier Health Sciences
ISBN: 0702038458
Size: 20.20 MB
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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.

Fates Worse Than Death

Author: Brian St.Claire-King
Publisher:
ISBN: 0971309507
Size: 58.52 MB
Format: PDF
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A role playing game of suspense, horror and hope in 2080 on the streets of Manhattan.

Genetic Medicine

Author: Barton Childs
Publisher: JHU Press
ISBN: 9780801874420
Size: 39.17 MB
Format: PDF
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"Highly recommended for a wide variety of audiences in addition to physicians and medical students... Fortunately, some of Childs's concepts are being applied to medical teaching already, but I know of no better synthesis in one book." -- Perspectives in Biology and Medicine

Neurogenetics

Author: Christine Klein MD
Publisher: Oxford University Press
ISBN: 019938391X
Size: 14.89 MB
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Aims To some, the field of neurogenetics appears perplexing and indecipherable. In this volume, we will address this issue by providing clinicians with a framework for dealing with these disorders. This book is not intended to be an in-depth, comprehensive review of all neurogenetic conditions from 'A to Z'. Instead, we will provide a concise discussion using case studies to illustrate the most important and topical neurogenetic disorders. This case-based approach will make the book easy to reference, clinically relevant, approachable, and, we feel, more interesting. Scope The contribution of genetics to many neurological diseases is becoming increasingly apparent, and so it is imperative to stay up-to-date with these conditions. The 31 chapters in this volume cover a wide range of inherited conditions including forms of dystonia, Parkinson disease, spastic paraplegias, mitochondrial diseases, myopathies, neuropathies, and much more. Particular attention is paid to practical issues regarding how to make a genetic diagnosis and how to counsel the family. We will also address some contemporary issues in neurogenetics, such as the impact of direct-to-consumer genetic testing. General Approach In keeping with the WDIDN series, each chapter commences with a brief case study, which will be used as an example of an important condition in neurogenetics. The discussion will then be centered on the case, with a focus on crucial issues regarding the clinical assessment, investigations and management of these conditions. Key clinical points will be listed at the end of the chapter, along with a list of suggested further reading. All case studies in this book are based on real patients seen by the authors or their colleagues.