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Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
Book Synopsis Epstein's Inborn Errors of Development by : Robert P. Erickson
Download or read book Epstein's Inborn Errors of Development written by Robert P. Erickson and published by Oxford University Press. This book was released on 2016 with total page 1553 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Book Synopsis Inborn Errors of Development by : Charles J. Epstein
Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
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. The landmark pediatrics reference – completely reinvented by an all new team of editors Rudolph's Pediatrics has virtually defined the pediatric field for over a century, becoming one of the most important and well-respected pediatrics texts ever published. Renowned for its balance of clinical features and treatment of disease with underlying biological principles, this classic sourcebook has helped generations of pediatricians optimize their care of infants, children, and adolescents. The Twenty-Third Edition of Rudolph's has been completely restructured and streamlined thanks to an all new team of editors whose goal was to reinvent this classic with today’s busy practitioner in mind. Presented in full color, the Twenty-Third Edition provides an up-to-date, in-depth survey of pediatric medicine unmatched by any other text. With its algorithmic approach to pediatric systems, the book facilitates the diagnosis and treatment of both common and uncommon pediatric illnesses; and it reflects new technologies and advances in molecular medicine that continue to evolve with current thinking about normal childhood development and pediatric disease processes. • New team of editors achieves consistency in both tone and depth of content • Contributions from section editors and authors from leading academic pediatrics programs give expert coverage of general pediatrics and all of the pediatric sub-specialties • Streamlined and consistent format for most chapters outlining Pathogenesis and Epidemiology, Clinical Manifestations, Diagnosis, Treatment, and Prevention • New 2-Volume presentation improves portability • Hundreds of full-color illustrations and tables • The acclaimed balance between clinical applicability and underlying biological principles offers pediatricians a depth of coverage not found anywhere else • Brand new or significantly revised chapters include: Complementary and Integrative Pediatrics, Childhood Adversity and Toxic Stress, Autism Spectrum Disorder, Pediatric Depression and Bipolar Spectrum Disorders, Extracorporeal Membrane Oxygenation (ECMO), Palliative Care for Children with Chronic Diseases, Arboviruses (with new coverage of Zika virus and chikungunya virus), Physiologic Basis of Pulmonary Function; Acute Lymphoblastic Leukemia; Neuroblastoma “You'd be hard pressed to find a resource that matches up to the comprehensive scope of Rudolph's. It's no wonder it's a staple in most offices and hospitals.” -Doody’s Review Service
Book Synopsis Rudolph's Pediatrics, 23rd Edition by : Mark W. Kline
Download or read book Rudolph's Pediatrics, 23rd Edition written by Mark W. Kline and published by McGraw Hill Professional. This book was released on 2018-08-21 with total page 2951 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. The landmark pediatrics reference – completely reinvented by an all new team of editors Rudolph's Pediatrics has virtually defined the pediatric field for over a century, becoming one of the most important and well-respected pediatrics texts ever published. Renowned for its balance of clinical features and treatment of disease with underlying biological principles, this classic sourcebook has helped generations of pediatricians optimize their care of infants, children, and adolescents. The Twenty-Third Edition of Rudolph's has been completely restructured and streamlined thanks to an all new team of editors whose goal was to reinvent this classic with today’s busy practitioner in mind. Presented in full color, the Twenty-Third Edition provides an up-to-date, in-depth survey of pediatric medicine unmatched by any other text. With its algorithmic approach to pediatric systems, the book facilitates the diagnosis and treatment of both common and uncommon pediatric illnesses; and it reflects new technologies and advances in molecular medicine that continue to evolve with current thinking about normal childhood development and pediatric disease processes. • New team of editors achieves consistency in both tone and depth of content • Contributions from section editors and authors from leading academic pediatrics programs give expert coverage of general pediatrics and all of the pediatric sub-specialties • Streamlined and consistent format for most chapters outlining Pathogenesis and Epidemiology, Clinical Manifestations, Diagnosis, Treatment, and Prevention • New 2-Volume presentation improves portability • Hundreds of full-color illustrations and tables • The acclaimed balance between clinical applicability and underlying biological principles offers pediatricians a depth of coverage not found anywhere else • Brand new or significantly revised chapters include: Complementary and Integrative Pediatrics, Childhood Adversity and Toxic Stress, Autism Spectrum Disorder, Pediatric Depression and Bipolar Spectrum Disorders, Extracorporeal Membrane Oxygenation (ECMO), Palliative Care for Children with Chronic Diseases, Arboviruses (with new coverage of Zika virus and chikungunya virus), Physiologic Basis of Pulmonary Function; Acute Lymphoblastic Leukemia; Neuroblastoma “You'd be hard pressed to find a resource that matches up to the comprehensive scope of Rudolph's. It's no wonder it's a staple in most offices and hospitals.” -Doody’s Review Service
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis The British National Bibliography by : Arthur James Wells
Download or read book The British National Bibliography written by Arthur James Wells and published by . This book was released on 2004 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Combining a comprehensive treatment of both embryogenesis and organ development in one reference work, this handbook is structured according to organ systems. It addresses the functions of all signaling pathways and growth factors important for the development of the embryo and the adult. With its focus on vertebrates, this volume provides an overview of the molecular communication regulating such processes as cell division, migration, and differentiation. Additionally, sections on developmental disorders and related novel therapeutic strategies highlight applications in molecular medicine.
Book Synopsis Cell Signaling and Growth Factors in Development by : Klaus Unsicker
Download or read book Cell Signaling and Growth Factors in Development written by Klaus Unsicker and published by . This book was released on 2006 with total page 720 pages. Available in PDF, EPUB and Kindle. Book excerpt: Combining a comprehensive treatment of both embryogenesis and organ development in one reference work, this handbook is structured according to organ systems. It addresses the functions of all signaling pathways and growth factors important for the development of the embryo and the adult. With its focus on vertebrates, this volume provides an overview of the molecular communication regulating such processes as cell division, migration, and differentiation. Additionally, sections on developmental disorders and related novel therapeutic strategies highlight applications in molecular medicine.
Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic counselling. Active counselling requires knowledge about the natural history of the disorder, an understanding of the genetic component and mode of inheritance, risk of the disorder in other family members, information about patient attitudes towards family planning and the possibility of pre-natal diagnosis. The Genetics of Renal Disease covers these issues in detail. The book provides a comprehensive account of both the hereditary nephropathies and more generalised disorders which may affect the renal tract. It includes comprehensive guidelines from an international group of authors on renal function and development, choromosomal disorders, dysmorphic syndromes, inherited predisposition to kidney cancer and gene therapy for renal cancer. Specific chapters deal with individual renal tract disorders such as an extensive discussion of Alport's disease, cystic renal diseases, the Bardet-Biedl and Alstrom syndromes. Each section gives a brief description of the clinical and pathological features of a particular disorder, followed by a review of the genetics of the disorder including incidence, inheritance of familial occurrence, genetic linkage and gene assignment, and prenatal diagnosis and carrier detection. Original studies are extensively quoted and are referenced at the end of each section. There are a great many dysmorphic syndromes which involve the urinary tract. These are incorporated within the book. Aimed primarily at clinical and medical geneticists, this book will also appeal to researchers into genetic kidney disease and genetic counsellors as well as nephrologists with an interest in this area.
Book Synopsis The Genetics of Renal Disease by : Frances Flinter
Download or read book The Genetics of Renal Disease written by Frances Flinter and published by . This book was released on 2003 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic counselling. Active counselling requires knowledge about the natural history of the disorder, an understanding of the genetic component and mode of inheritance, risk of the disorder in other family members, information about patient attitudes towards family planning and the possibility of pre-natal diagnosis. The Genetics of Renal Disease covers these issues in detail. The book provides a comprehensive account of both the hereditary nephropathies and more generalised disorders which may affect the renal tract. It includes comprehensive guidelines from an international group of authors on renal function and development, choromosomal disorders, dysmorphic syndromes, inherited predisposition to kidney cancer and gene therapy for renal cancer. Specific chapters deal with individual renal tract disorders such as an extensive discussion of Alport's disease, cystic renal diseases, the Bardet-Biedl and Alstrom syndromes. Each section gives a brief description of the clinical and pathological features of a particular disorder, followed by a review of the genetics of the disorder including incidence, inheritance of familial occurrence, genetic linkage and gene assignment, and prenatal diagnosis and carrier detection. Original studies are extensively quoted and are referenced at the end of each section. There are a great many dysmorphic syndromes which involve the urinary tract. These are incorporated within the book. Aimed primarily at clinical and medical geneticists, this book will also appeal to researchers into genetic kidney disease and genetic counsellors as well as nephrologists with an interest in this area.
This unique textbook aims to assist clinicians dealing with deaf patients and families by critically reviewing all relevant published material on genetics, pathology, clinical presentation, diagnosis and laboratory findings. Thoroughly revised, the Second Edition has been updated throughout and includes a new chapter on hearing loss with cardiovascular disorders. It reflects all the progress on the molecular understanding of deafness made in recent years and integrates these findings into clinical practice.
Book Synopsis Hereditary Hearing Loss and Its Syndromes by : Helga V. Toriello
Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press, USA. This book was released on 2004 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt: This unique textbook aims to assist clinicians dealing with deaf patients and families by critically reviewing all relevant published material on genetics, pathology, clinical presentation, diagnosis and laboratory findings. Thoroughly revised, the Second Edition has been updated throughout and includes a new chapter on hearing loss with cardiovascular disorders. It reflects all the progress on the molecular understanding of deafness made in recent years and integrates these findings into clinical practice.
This source expertly examines the discovery, biological structure, control, and continued clarification of endotoxin from a parenteral manufacturing perspective, with in-depth discussion of state-of-the-art technologies involving Limulus amebocyte lysate (LAL) such as assay development, automation, depyrogenation. Completely revised and expanded, this Third Edition contains the knowledge necessary to apply endotoxin testing in the increasingly complex pharmaceutical environment, featuring sections detailing the latest information regarding clinical advances, regulation standards, and validation procedures for computerized kinetic tests.
Book Synopsis Endotoxins by : Kevin L. Williams
Download or read book Endotoxins written by Kevin L. Williams and published by CRC Press. This book was released on 2007-02-23 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: This source expertly examines the discovery, biological structure, control, and continued clarification of endotoxin from a parenteral manufacturing perspective, with in-depth discussion of state-of-the-art technologies involving Limulus amebocyte lysate (LAL) such as assay development, automation, depyrogenation. Completely revised and expanded, this Third Edition contains the knowledge necessary to apply endotoxin testing in the increasingly complex pharmaceutical environment, featuring sections detailing the latest information regarding clinical advances, regulation standards, and validation procedures for computerized kinetic tests.
The New York Times bestseller – with a new afterword about early specialization in youth sports – from the author of Range: Why Generalists Triumph in a Specialized World. The debate is as old as physical competition. Are stars like Usain Bolt, Michael Phelps, and Serena Williams genetic freaks put on Earth to dominate their respective sports? Or are they simply normal people who overcame their biological limits through sheer force of will and obsessive training? In this controversial and engaging exploration of athletic success and the so-called 10,000-hour rule, David Epstein tackles the great nature vs. nurture debate and traces how far science has come in solving it. Through on-the-ground reporting from below the equator and above the Arctic Circle, revealing conversations with leading scientists and Olympic champions, and interviews with athletes who have rare genetic mutations or physical traits, Epstein forces us to rethink the very nature of athleticism.
Book Synopsis The Sports Gene by : David Epstein
Download or read book The Sports Gene written by David Epstein and published by Penguin. This book was released on 2014-04-29 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: The New York Times bestseller – with a new afterword about early specialization in youth sports – from the author of Range: Why Generalists Triumph in a Specialized World. The debate is as old as physical competition. Are stars like Usain Bolt, Michael Phelps, and Serena Williams genetic freaks put on Earth to dominate their respective sports? Or are they simply normal people who overcame their biological limits through sheer force of will and obsessive training? In this controversial and engaging exploration of athletic success and the so-called 10,000-hour rule, David Epstein tackles the great nature vs. nurture debate and traces how far science has come in solving it. Through on-the-ground reporting from below the equator and above the Arctic Circle, revealing conversations with leading scientists and Olympic champions, and interviews with athletes who have rare genetic mutations or physical traits, Epstein forces us to rethink the very nature of athleticism.