Read Books Online and Download eBooks, EPub, PDF, Mobi, Kindle, Text Full Free.
Diagnostic Dysmorphology
Download Diagnostic Dysmorphology full books in PDF, epub, and Kindle. Read online Diagnostic Dysmorphology ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
Book Synopsis Diagnostic Dysmorphology by : J.M. Aase
Download or read book Diagnostic Dysmorphology written by J.M. Aase and published by Springer. This book was released on 1990-11-30 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text provides a systematic approach to the diagnosis of children with multiple birth defects. It outlines the embryologic origins of normal and abnormal physical development, describes the major and minor structural anomalies in each of 20 anatomic regions, and teaches techniques of observation and synthesis useful in dysmorphologic diagnosis. Medical specialists will find Dr. Aase's book invaluable both as an instructive tool and as a clinical reference guide.
Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow
Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies
Book Synopsis Aneurysms-Osteoarthritis Syndrome by : Denise van der Linde
Download or read book Aneurysms-Osteoarthritis Syndrome written by Denise van der Linde and published by Elsevier. This book was released on 2016-10-03 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. - Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care - Contains clinical management guidance on optimal cardiovascular treatments and surgery - Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene - Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features
Book Synopsis The Bedside Dysmorphologist by : William Reardon
Download or read book The Bedside Dysmorphologist written by William Reardon and published by Oxford University Press, USA. This book was released on 2015-10-14 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.
Author :Alessandro Castriota-Scanderbeg Publisher :Springer Science & Business Media ISBN 13 :3540303618 Total Pages :970 pages Book Rating :4.5/5 (43 download)
Book Synopsis Abnormal Skeletal Phenotypes by : Alessandro Castriota-Scanderbeg
Download or read book Abnormal Skeletal Phenotypes written by Alessandro Castriota-Scanderbeg and published by Springer Science & Business Media. This book was released on 2006-03-20 with total page 970 pages. Available in PDF, EPUB and Kindle. Book excerpt: Taking a symptom-oriented approach, this book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. Its clear structure makes it an essential, practical guide for radiologists, geneticists, and pediatricians.
Book Synopsis Oxford Desk Reference by : Helen V. Firth
Download or read book Oxford Desk Reference written by Helen V. Firth and published by Oxford University Press, USA. This book was released on 2005 with total page 708 pages. Available in PDF, EPUB and Kindle. Book excerpt: Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
Book Synopsis Nelson Pediatric Symptom-Based Diagnosis E-Book by : Robert Kliegman
Download or read book Nelson Pediatric Symptom-Based Diagnosis E-Book written by Robert Kliegman and published by Elsevier Health Sciences. This book was released on 2022-01-10 with total page 1355 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patients don't present with a disease; they present with symptoms. Using a practical, symptom-based organization, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition, offers authoritative guidance on differential diagnosis and treatment of diseases and disorders in children and adolescents, and covers the symptoms you're likely to see in practice, their mimics, and uncommon disorders. Drs. Robert M. Kliegman, Heather Toth, Brett J. Bordini, and Donald Basel walk you through what to consider and how to proceed when faced with common symptoms such as cough, fever, headache, autistic-like behaviors, chronic pain, chest pain, gait disturbances, and much more. - Begins with a presenting symptom and leads you through differential diagnosis and a concise review of treatment recommendations. - Contains more than a dozen new topics including Disease Mimics: An Approach to Undiagnosed Diseases, Autistic-like Behaviors, Shock, Hypertension, Neurocognitive and Developmental Regression, Chronic Pain, Hypertonicity, Movement Disorders, Hypermobility, and more. - Features a new focus on symptoms of rarer diseases that are mimics of more common diseases. - Offers a user-friendly approach to Altered Mental Status such as coma and other CNS disorders, with numerous clinically useful tables and figures to guide clinical decision making in various care settings. - Uses a highly templated format for easy reference and quick answers to clinical questions, with the same consistent presentation in each chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment. - Includes numerous full-color illustrations, algorithms, tables, and "red flags" to aid differential diagnosis. - Serves as an ideal companion to Nelson Textbook of Pediatrics, 21st Edition. Content in this book is referenced and linked electronically to the larger text, providing easy access to full background and evidence-based treatment and management content when you own both references.
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz
Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.
Book Synopsis The Genetics of African Populations in Health and Disease by : Muntaser E. Ibrahim
Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Book Synopsis Catalogue of Unbalanced Chromosome Aberrations in Man by : Albert Schinzel
Download or read book Catalogue of Unbalanced Chromosome Aberrations in Man written by Albert Schinzel and published by Walter de Gruyter GmbH & Co KG. This book was released on 2020-10-26 with total page 936 pages. Available in PDF, EPUB and Kindle. Book excerpt: No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".
Book Synopsis Neonatology: Clinical Practice and Procedures by : Philip Sunshine
Download or read book Neonatology: Clinical Practice and Procedures written by Philip Sunshine and published by McGraw-Hill Education / Medical. This book was released on 2015-05-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. Understand the fundamental principles of neonatology and learn evidence-based care strategies With coverage that strikes the perfect balance between proven management approaches and fundamental principles, this unique resource combines the benefits of a comprehensive neonatology textbook with a practical procedural guide. You will get a detailed step-by-step instruction on diagnosis, management, and treatment of acute problems of the newborn as organized by organ system, based on the highest level of evidence available, along with a thorough review of topics such as epidemiology, ethics, legal issues in the NICU, monitoring devices, fluid requirements, and enteral nutrition. Features A full-color presentation that includes hundreds of figures and tables An emphasis on proven care strategies for improved outcomes Detailed procedural instruction An organ-system approach when discussing neonatal disorders A practical approach to all topics with detailed management approaches and procedures Neonatology: Clinical Practice and Procedures will prove to be an outstanding refresher for any clinician involved in the diagnosis and management of newborn infants and a valuable instructional guide for junior staff and residents.
Book Synopsis The Neuropsychology of Autism by : Deborah Fein
Download or read book The Neuropsychology of Autism written by Deborah Fein and published by Oxford University Press. This book was released on 2011-06-09 with total page 559 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Neuropsychology of Autism provides an up-to-date summary on the neuropsychology of autism spectrum disorders (ASD), written by leaders in the field. It summarizes current knowledge about neurochemistry, neuroanatomy, genetics, and clinical presentations and provides helpful discussions on key functions such as language, memory, attention, executive functions, social cognition, motor and sensory functioning.
Book Synopsis Syndromes of the Head and Neck by : Robert J. Gorlin
Download or read book Syndromes of the Head and Neck written by Robert J. Gorlin and published by McGraw-Hill Companies. This book was released on 1976 with total page 846 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Zitelli and Davis' Atlas of Pediatric Physical Diagnosis E-Book by : Basil J. Zitelli
Download or read book Zitelli and Davis' Atlas of Pediatric Physical Diagnosis E-Book written by Basil J. Zitelli and published by Elsevier Health Sciences. This book was released on 2012-04-12 with total page 1111 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accurately diagnose the entire spectrum of pediatric conditions with the most trusted atlas in the field: Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis, 6th Edition. Over 2,500 superb clinical photographs provide unparalleled coverage of important clinical signs and symptoms – from the common (pinkeye) to the rare (Williams syndrome). Trusted by residents and clinicians alike, this updated classic helps you quickly and confidently diagnose any childhood condition you’re likely to encounter. Get the comprehensive coverage you need - from pertinent historical factors and examination techniques to visual and diagnostic methods - with over 2,500 practical, clinical photographs to help identify and diagnose hundreds of pediatric disorders. Benefit from authoritative guidance on genetic disorders and dysmorphic conditions, neonatology, developmental-behavioral pediatrics, allergy and immunology, conditions of each body system, child abuse and neglect, infectious disease, surgery, pediatric and adolescent gynecology, orthopedics, and craniofacial syndromes – all enhanced by over 3,400 high-quality images. Prepare for the pediatric boards with one of the best, most widely used review tools available. Access the complete contents and illustrations online at www.expertconsult.com - fully searchable! Get in-depth guidance on your laptop or mobile device with online diagnostic videos of non-seizure neurological symptoms, respiratory disorders, and seizures, plus an infant development assessment tool, a downloadable image gallery (JPEGs or PPTs for easy insertion into academic presentations) and links to PubMed – all online at www.expertconsult.com. Gain an up-to-date understanding of today’s hottest topics, including autism spectrum disorders, childhood obesity, inborn errors of metabolism, malformations associated with teratogens, and mitochondrial disorders. Stay current with new chapters and revised coverage of genetics, radiology, development, endocrinology, infectious diseases, cerebral palsy, skeletal syndromes, and child abuse.
Book Synopsis Expert Systems by : Cornelius T. Leondes
Download or read book Expert Systems written by Cornelius T. Leondes and published by Elsevier. This book was released on 2001-09-26 with total page 2125 pages. Available in PDF, EPUB and Kindle. Book excerpt: This six-volume set presents cutting-edge advances and applications of expert systems. Because expert systems combine the expertise of engineers, computer scientists, and computer programmers, each group will benefit from buying this important reference work. An "expert system" is a knowledge-based computer system that emulates the decision-making ability of a human expert. The primary role of the expert system is to perform appropriate functions under the close supervision of the human, whose work is supported by that expert system. In the reverse, this same expert system can monitor and double check the human in the performance of a task. Human-computer interaction in our highly complex world requires the development of a wide array of expert systems. Expert systems techniques and applications are presented for a diverse array of topics including Experimental design and decision support The integration of machine learning with knowledge acquisition for the design of expert systems Process planning in design and manufacturing systems and process control applications Knowledge discovery in large-scale knowledge bases Robotic systems Geograhphic information systems Image analysis, recognition and interpretation Cellular automata methods for pattern recognition Real-time fault tolerant control systems CAD-based vision systems in pattern matching processes Financial systems Agricultural applications Medical diagnosis
