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Genetics And Neurology

Author: Sarah Bundey
Publisher: Elsevier
ISBN: 1483281019
Size: 70.37 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.

Genetics For Surgeons

Author: Patrick John Morrison
Publisher: Remedica
ISBN: 1901346692
Size: 49.83 MB
Format: PDF, ePub
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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.

Oxford Desk Reference Clinical Genetics And Genomics

Author: Helen V. Firth
Publisher: Oxford University Press
ISBN: 0192519832
Size: 66.21 MB
Format: PDF, ePub
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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.

Pediatric Ophthalmology Neuro Ophthalmology Genetics

Author: Birgit Lorenz
Publisher: Springer Science & Business Media
ISBN: 354031220X
Size: 34.59 MB
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Series: • Highly practical and clinically relevant • Ophthalmology series is indispensable for continuous education and advanced training • All editors with international reputation and contributing authors with expertise in their topics • Reader-friendly format: Well-structured text and design, quick and easy to read • Richly illustrated with numerous tables and color photos • Bridges the gap between primary literature and daily practice • Every 2nd year each subject is refreshed with timely information about the new development in the specialized field This volume: Appeals not only to Ophthalmologists, but also to Pediatricians Gives quick and practical introduction to the most up-to date treatment options in pediatric ophthalmology Only addresses new developments of the past 2 years Covers 3 main topics: Genetics, Pediatrics and Neurophthalmology, while competing titles focus on one of these subspecialties

Thompson Thompson Genetics In Medicine E Book

Author: Robert L. Nussbaum
Publisher: Elsevier Health Sciences
ISBN: 1437700934
Size: 50.84 MB
Format: PDF, Mobi
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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.

From Medical School To Residency

Author: Roger P. Smith
Publisher: Springer Science & Business Media
ISBN: 1461211786
Size: 34.14 MB
Format: PDF, Kindle
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This indispensable resource from a noted physician who has spent years advising students and selecting residents gives students all they need to know to successfully match in a residency program in 2000 and beyond. It is the only guide to fully cover the electronic application and match process, complete with lots of screen shots. The manual also addresses questions students should ask and strategies for successful matching.

Neurogenetics

Author: Nicholas Wood
Publisher: Cambridge University Press
ISBN: 052154372X
Size: 61.38 MB
Format: PDF, ePub, Docs
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A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

Contemporary Medical Surgical Nursing

Author: Rick Daniels
Publisher: Cengage Learning
ISBN: 1133418759
Size: 50.77 MB
Format: PDF, Mobi
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We listened. We listened to multiple instructor and student focus groups, class testers, survey respondents, current adopters and through more than 400 peer reviews. Contemporary Medical-Surgical Nursing, Second Edition, by Rick Daniels and Leslie Nicoll is an exciting new offering of this comprehensive, concept based text, which is created for instructors and students to address the adult health concepts that supports the most current holistic nursing practice and helps to bridge the gap from classroom to practice. All of this is delivered through a caring approach to the content, a central theme to foster quality nursing care for generations to come. Contemporary Medical-Surgical Nursing, Second Edition is a thoroughly researched and tested book and package focused on meeting the needs of today's nursing student. Important Notice: Media content referenced within the product description or the product text may not be available in the ebook version.

A Short History Of Medical Genetics

Author: Peter S. Harper
Publisher: Oxford University Press
ISBN: 0195187504
Size: 16.71 MB
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Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Victor Mckusick And The History Of Medical Genetics

Author: Krishna R. Dronamraju
Publisher: Springer Science & Business Media
ISBN: 1461416779
Size: 47.33 MB
Format: PDF
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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.