Characterization Of The Neurofibromatosis Type 1 Gene Product And Its Interaction With Ras

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Neurofibromatosis Type 1

Author : Meena Upadhyaya
Publisher : Springer Science & Business Media
ISBN 13 : 3642328644
Total Pages : 711 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.

Multidisciplinary Approach to Neurofibromatosis Type 1

Author : Gianluca Tadini
Publisher : Springer Nature
ISBN 13 : 3319924508
Total Pages : 316 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Multidisciplinary Approach to Neurofibromatosis Type 1 by : Gianluca Tadini

Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.

Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 318 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis

Author : Frank W. Crowe
Publisher :
ISBN 13 :
Total Pages : 200 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis by : Frank W. Crowe

Download or read book A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis written by Frank W. Crowe and published by . This book was released on 1956 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Diagnostic Molecular Pathology

Author : William B. Coleman
Publisher : Academic Press
ISBN 13 : 0128229934
Total Pages : 846 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Diagnostic Molecular Pathology by : William B. Coleman

Download or read book Diagnostic Molecular Pathology written by William B. Coleman and published by Academic Press. This book was released on 2023-10-18 with total page 846 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. - Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more - Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient - Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient - Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease

The Heterogeneity of Cancer Metabolism

Author : Anne Le
Publisher : Springer
ISBN 13 : 331977736X
Total Pages : 186 pages
Book Rating : 4.3/5 (197 download)

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Book Synopsis The Heterogeneity of Cancer Metabolism by : Anne Le

Download or read book The Heterogeneity of Cancer Metabolism written by Anne Le and published by Springer. This book was released on 2018-06-26 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic alterations in cancer, in addition to being the fundamental drivers of tumorigenesis, can give rise to a variety of metabolic adaptations that allow cancer cells to survive and proliferate in diverse tumor microenvironments. This metabolic flexibility is different from normal cellular metabolic processes and leads to heterogeneity in cancer metabolism within the same cancer type or even within the same tumor. In this book, we delve into the complexity and diversity of cancer metabolism, and highlight how understanding the heterogeneity of cancer metabolism is fundamental to the development of effective metabolism-based therapeutic strategies. Deciphering how cancer cells utilize various nutrient resources will enable clinicians and researchers to pair specific chemotherapeutic agents with patients who are most likely to respond with positive outcomes, allowing for more cost-effective and personalized cancer therapeutic strategies.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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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.

Mechanisms of Memory

Author : J. David Sweatt
Publisher : Academic Press
ISBN 13 : 0080959199
Total Pages : 362 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Mechanisms of Memory by : J. David Sweatt

Download or read book Mechanisms of Memory written by J. David Sweatt and published by Academic Press. This book was released on 2009-09-28 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fully revised second edition provides the only unified synthesis of available information concerning the mechanisms of higher-order memory formation. It spans the range from learning theory, to human and animal behavioral learning models, to cellular physiology and biochemistry. It is unique in its incorporation of chapters on memory disorders, tying in these clinically important syndromes with the basic science of synaptic plasticity and memory mechanisms. It also covers cutting-edge approaches such as the use of genetically engineered animals in studies of memory and memory diseases. Written in an engaging and easily readable style and extensively illustrated with many new, full-color figures to help explain key concepts, this book demystifies the complexities of memory and deepens the reader's understanding. - More than 25% new content, particularly expanding the scope to include new findings in translational research. - Unique in its depth of coverage of molecular and cellular mechanisms - Extensive cross-referencing to Comprehensive Learning and Memory - Discusses clinically relevant memory disorders in the context of modern molecular research and includes numerous practical examples

Dermato-Oncology Study Guide

Author : Vincent Liu
Publisher : Springer Nature
ISBN 13 : 3030534375
Total Pages : 389 pages
Book Rating : 4.0/5 (35 download)

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Book Synopsis Dermato-Oncology Study Guide by : Vincent Liu

Download or read book Dermato-Oncology Study Guide written by Vincent Liu and published by Springer Nature. This book was released on 2021-03-23 with total page 389 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides clinicians, clinicians-in-training and researchers with a unique rapid-access educational resource on the spectrum of issues at the intersection of skin and malignancy. In it, there is clinical detail provided on how the skin reveals systemic malignancy via cutaneous metastases, genodermatoses or paraneoplastic dermatoses. At the same time, it reviews pharmacologic treatment of internal malignancy and how this can result in cutaneous adverse reactions; conversely, therapeutics for skin conditions can increase risk for internal malignancy. As arguably the most significant cutaneous malignancy, melanoma receives specific attention for its metastatic potential, current diagnostic advances, and recent therapeutic breakthroughs. Dermato-Oncology Study Guide: Essential Text and Review serves a critical educational need for clinicians caring for patients with systemic malignancy by creating an easy-to-use resource that provides practical tools to recognize skin signs of internal malignancy. Furthermore it helps in anticipating and managing adverse reactions of therapeutics for systemic malignancy, and gives the reader the opportunity to weigh the risks of malignancy of pharmacologic agents for skin disease.

Progress in Genomic Medicine

Author : Moyra Smith
Publisher : Elsevier
ISBN 13 : 0323915477
Total Pages : 396 pages
Book Rating : 4.3/5 (239 download)

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Book Synopsis Progress in Genomic Medicine by : Moyra Smith

Download or read book Progress in Genomic Medicine written by Moyra Smith and published by Elsevier. This book was released on 2021-11-04 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in Genomic Medicine: From Research to Clinical Application provides a careful synthesis of the foundations, current trends and translational challenges in genomic medicine, clarifying pathways forward and enabling genomic medicine research and implementation across clinical settings and treatment development. Sections address the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities, overview clinical applications made possible through genomic advances, with chapters on DNA sequencing for clinical genetic diagnosis, genotype-phenotype correlations in individuals and across populations, new-born screening for treatable genetic disorders, and more. In addition, social, ethical and public health aspects of applying genomic technologies are included throughout. Here, Dr. Smith applies her experience and participation in the field, across its major milestones, to put current research, clinical advances, and ongoing questions in context. Traces the development of the field of genomic medicine, exploring key scientific advances and recent steps forward in clinical translation Considers the influence of genomic medicine on complex and monogenic pathology analysis, treatment plans and therapeutics Ties recent research and clinical advances to their historical context

Heterologous Gene Expression in E.coli

Author : Nicola A. Burgess-Brown
Publisher : Humana Press
ISBN 13 : 9781493983285
Total Pages : 429 pages
Book Rating : 4.9/5 (832 download)

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Book Synopsis Heterologous Gene Expression in E.coli by : Nicola A. Burgess-Brown

Download or read book Heterologous Gene Expression in E.coli written by Nicola A. Burgess-Brown and published by Humana Press. This book was released on 2018-07-20 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: This detailed volume provides a toolbox for designing constructs, tackling expression and solubility issues, handling membrane proteins and protein complexes, and exploring innovative engineering of E. coli. The topics are largely grouped under four parts: high-throughput cloning, expression screening, and optimization of expression conditions, protein production and solubility enhancement, case studies to produce challenging proteins and specific protein families, as well as applications of E. coli expression. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Heterologous Gene Expression in E. coli: Methods and Protocols serves molecular biologists, biochemists and structural biologists, those in the beginning of their research careers to those in their prime, to give both an historical and modern overview of the methods available to express their genes of interest in this exceptional organism.

The Molecular Basis of Cancer

Author : John Mendelsohn
Publisher : Elsevier Health Sciences
ISBN 13 : 1437710999
Total Pages : 1948 pages
Book Rating : 4.4/5 (377 download)

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Book Synopsis The Molecular Basis of Cancer by : John Mendelsohn

Download or read book The Molecular Basis of Cancer written by John Mendelsohn and published by Elsevier Health Sciences. This book was released on 2008-04-01 with total page 1948 pages. Available in PDF, EPUB and Kindle. Book excerpt: Successfully fighting cancer starts with understanding how it begins. This thoroughly revised 3rd Edition explores the scientific basis for our current understanding of malignant transformation and the pathogenesis and treatment of cancer. A team of leading experts thoroughly explain the molecular biologic principles that underlie the diagnostic tests and therapeutic interventions now being used in clinical trials and practice. Incorporating cutting-edge advances and the newest research, the book provides thorough descriptions of everything from molecular abnormalities in common cancers to new approaches for cancer therapy. Features sweeping updates throughout, including molecular targets for the development of anti-cancer drugs, gene therapy, and vaccines...keeping you on the cutting edge of your specialty. Offers a new, more user-friendly full-color format so the information that you need is easier to find. Presents abundant figures-all redrawn in full color-illustrating major concepts for easier comprehension. Features numerous descriptions of the latest clinical strategies-helping you to understand and take advantage of today’s state-of-the-art biotechnology advances.

Biophysical Approaches Determining Ligand Binding to Biomolecular Targets

Author : Alberto Podjarny
Publisher : Royal Society of Chemistry
ISBN 13 : 1849732663
Total Pages : 373 pages
Book Rating : 4.8/5 (497 download)

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Book Synopsis Biophysical Approaches Determining Ligand Binding to Biomolecular Targets by : Alberto Podjarny

Download or read book Biophysical Approaches Determining Ligand Binding to Biomolecular Targets written by Alberto Podjarny and published by Royal Society of Chemistry. This book was released on 2011-04-01 with total page 373 pages. Available in PDF, EPUB and Kindle. Book excerpt: The binding of small ligands to biological molecules is central to most aspects of biological function. The past twenty years has seen the development of an increasing armoury of biophysical methods that not only detect such binding, but also provide varying degrees of information about the kinetics, thermodynamics and structural aspects of the process. These methods have received increasing attention with the growth in more rational approaches to drug discovery and design. This book reviews the latest advances in the application of biophysics to the study of ligand binding. It provides a complete overview of current techniques to identify ligands, characterise their binding sites and understand their binding mechanisms. Particular emphasis is given to the combined use of different techniques and their relative strengths and weaknesses. Consistency in the way each technique is described makes it easy for readers to select the most suitable protocol for their research. The introduction explains why some techniques are more suitable than others and emphasizes the possible synergies between them. The following chapters, all written by a specialist in the particular technique, focus on each method individually. The book finishes by describing how several complimentary techniques can be used together for maximum effectiveness. This book is suitable for biomolecular scientists at graduate or post-doctoral level in academia and industry. Biologists and chemists will also find it a useful introduction to the techniques available.

Cancer Genomics

Author : Graham Dellaire
Publisher : Academic Press
ISBN 13 : 0123972744
Total Pages : 511 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis Cancer Genomics by : Graham Dellaire

Download or read book Cancer Genomics written by Graham Dellaire and published by Academic Press. This book was released on 2013-11-21 with total page 511 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics addresses how recent technological advances in genomics are shaping how we diagnose and treat cancer. Built on the historical context of cancer genetics over the past 30 years, the book provides a snapshot of the current issues and state-of-the-art technologies used in cancer genomics. Subsequent chapters highlight how these approaches have informed our understanding of hereditary cancer syndromes and the diagnosis, treatment and outcome in a variety of adult and pediatric solid tumors and hematologic malignancies. The dramatic increase in cancer genomics research and ever-increasing availability of genomic testing are not without significant ethical issues, which are addressed in the context of the return of research results and the legal considerations underlying the commercialization of genomic discoveries. Finally, the book concludes with "Future Directions", examining the next great challenges to face the field of cancer genomics, namely the contribution of non-coding RNAs to disease pathogenesis and the interaction of the human genome with the environment. - Tools such as sidebars, key concept summaries, a glossary, and acronym and abbreviation definitions make this book highly accessible to researchers from several fields associated with cancer genomics. - Contributions from thought leaders provide valuable historical perspective to relate the advances in the field to current technologies and literature.

Neurofibromatoses

Author : Dieter Kaufmann
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805585209
Total Pages : 203 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Neurofibromatoses by : Dieter Kaufmann

Download or read book Neurofibromatoses written by Dieter Kaufmann and published by Karger Medical and Scientific Publishers. This book was released on 2008 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with.This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists.

Neurofibromatoses in Clinical Practice

Author : Rosalie E Ferner
Publisher : Springer Science & Business Media
ISBN 13 : 0857296299
Total Pages : 178 pages
Book Rating : 4.8/5 (572 download)

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Book Synopsis Neurofibromatoses in Clinical Practice by : Rosalie E Ferner

Download or read book Neurofibromatoses in Clinical Practice written by Rosalie E Ferner and published by Springer Science & Business Media. This book was released on 2011-09-05 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatoses in Clinical Practice provides a succinct, accessible guide to the neurofibromatoses including diagnosis, management protocols and indications for referral to specialist centers. Neurocutaneous diseases are complex to diagnose and treat and many patients require specialist multidisciplinary management and surveillance. Due to multiple disease manifestations, patients can present to different clinicians without specialist expertise - general practitioners, pediatricians, neurologists, geneticists, surgeons and ophthalmologists. The clinically focused format will enable rapid consultation during clinics, facilitate disease pattern recognition, and indicate care pathways. The clinical quiz highlights common pitfalls in diagnosis and management and a glossary and reference section provide details for access to specialist NF clinics throughout the UK and internationally. Written by experts in the field Neurofibromatoses in Clinical Practice is a succinct and practical guide for consultants in training and practice, general practitioners and specialist nurses.

Braun-Falco ́s Dermatology

Author : Walter H.C. Burgdorf
Publisher : Springer
ISBN 13 : 9783540293163
Total Pages : 0 pages
Book Rating : 4.2/5 (931 download)

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Book Synopsis Braun-Falco ́s Dermatology by : Walter H.C. Burgdorf

Download or read book Braun-Falco ́s Dermatology written by Walter H.C. Burgdorf and published by Springer. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Also the 3rd edition of "Dermatology" covers all the classical and related fields of dermatology, providing a wealth of information on diagnostic methods, clinical features, pathophysiology, and differential diagnosis. About 950 excellent photos and diagrams help the reader become acquainted with the immense variety of dermatological diseases. The contents of all chapters have been updated. New chapters have been included covering numerous subjects, e.g. dermatopathology, sonography, disorders of chromosomal instability and defective DNA repair, aging skin, sport dermatology, aesthetic therapy. The book is a must for every doctor confronted with dermatological problems.