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Clinical Genomics Second Edition


Clinical Genomics Second Edition
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Clinical Genomics


Clinical Genomics
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Author : Shashikant Kulkarni
language : en
Publisher: Academic Press
Release Date : 2014-11-10

Clinical Genomics written by Shashikant Kulkarni and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-11-10 with Science categories.


Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. - Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm - Tried and tested practice-based analysis for precision diagnosis and treatment plans - Specific pipelines and meta-analysis for full range of clinically important variants



Clinical Genomics Second Edition


Clinical Genomics Second Edition
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Author : Shashikant Kulkarni
language : en
Publisher: Academic Press
Release Date : 2023-05-01

Clinical Genomics Second Edition written by Shashikant Kulkarni and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-05-01 with Science categories.


Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing. Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics.



Clinical Genomics Practical Applications For Adult Patient Care


Clinical Genomics Practical Applications For Adult Patient Care
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Author : Michael F. Murray (Physician)
language : en
Publisher: McGraw Hill Professional
Release Date : 2014

Clinical Genomics Practical Applications For Adult Patient Care written by Michael F. Murray (Physician) and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014 with Medical categories.


The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.



Essentials Of Medical Genomics


Essentials Of Medical Genomics
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Author : Stuart M. Brown
language : en
Publisher: John Wiley & Sons
Release Date : 2008-12-29

Essentials Of Medical Genomics written by Stuart M. Brown and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-12-29 with Medical categories.


Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays New edition responds to reviewers' and users' desire for greater coverage—now the most useful handbook on the market! Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook NEW: PowerPoint slides of images available at instructor website



Anesthesiology Second Edition


Anesthesiology Second Edition
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Author : David E. Longnecker
language : en
Publisher: McGraw Hill Professional
Release Date : 2012-05-06

Anesthesiology Second Edition written by David E. Longnecker and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-05-06 with Medical categories.


Keep pace with current anesthesiology practice—with the new edition of this standard-setting guide This classic text—-written and edited by an internationally renowned author team—-defines today’s anesthesia practice for residents and practitioners alike. The book features crisp, readable prose that focuses on the most relevant topics in anesthesiology, perioperative medicine, critical care medicine, and pain medicine. Features NEW Increased focus on perioperative medicine, including outstanding sections on pre-op assessment, critical care medicine, and pain management NEW Expanded information on regional anesthesia reflects the best of current anesthesia practice, including ultrasound-guided techniques NEW Downloadable video clips of common procedures Complete coverage that spans the entire field, including all of the anesthetic considerations, preparations, and procedures for the surgical patient, the pain patient, and critical care patient Ideal for anesthesiology residents and practitioners preparing for the Maintenance of Certification in Anesthesiology (MOCA) exam Balanced presentation surveys clinical information, practical clinical procedures, and the molecular and basic scientific foundations of anesthesiology practice Timely emphasis on safety, quality, and patient-centered care Learning aids such as key points, numerous tables and algorithms, and key references Engaging full-color presentation



Essentials Of Medical Genomics


Essentials Of Medical Genomics
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Author : Stuart M. Brown
language : en
Publisher: John Wiley & Sons
Release Date : 2003-07-18

Essentials Of Medical Genomics written by Stuart M. Brown and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-07-18 with Science categories.


This introductory reference provides a practical, concise summary of everything a physician needs to know about genomics and emerging technologies. Through extensive illustrative examples, this book offers a clear and concise starting point to understanding how medicine has been, and will be, transformed by genomics and bioinformatics. Beginning with a clear overview on the Human Genome Project and its revolutionary impact, the book further investigates new technologies in detail, including: high-throughput DNA sequencing, genome sequence databases, microarrays, proteomics, pharmacogenomics, genetic testing, and gene therapy.



Comprehensive Pediatric Hospital Medicine Second Edition


Comprehensive Pediatric Hospital Medicine Second Edition
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Author : Lisa B. Zaoutis
language : en
Publisher: McGraw Hill Professional
Release Date : 2017-12-29

Comprehensive Pediatric Hospital Medicine Second Edition written by Lisa B. Zaoutis and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-12-29 with Medical categories.


The gold-standard text in pediatric hospital medicine – updated and streamlined for today’s practice Hailed by reviewers and clinicians alike, Comprehensive Pediatric Hospital Medicine has become the specialty’s cornerstone text. Edited by five leading figures in pediatric hospital medicine, this acclaimed resource brings you the most up-to-date, evidence-based approaches to inpatient pediatric care from experts in their fields. Comprehensive Pediatric Hospital Medicine, Second Edition opens with an informative introductory section that defines hospital medicine and addresses general issues of hospitalist practice and administration. This includes important topics such as medical legal issues, communications, electronic health records, palliative care, ethical issues, careers, professional organizations, and more. The book then moves into commonly presenting signs and symptoms. This is followed by the largest section, a breakdown of diseases by system. The text concludes with a procedures section that provides hard-to-find instruction on the procedures most commonly performed on children in a hospital setting. The Disease chapters are templated to include Background, Pathophysiology, Differential Diagnosis, Diagnostic Evaluation, Management, Special Considerations, Key Points, References, algorithms, and more. The Procedures chapters include Indications, Contraindications, Anatomy, Equipment, Procedure, Preparation, Technique, Complications, and Special Considerations. If you’re in need of an up-to-date, comprehensive, and authoritative text that spans the emerging field of pediatric hospital medicine, your search ends here.



Oxford Desk Reference Clinical Genetics And Genomics


Oxford Desk Reference Clinical Genetics And Genomics
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Author : Helen V. Firth
language : en
Publisher: Oxford University Press
Release Date : 2017-09-08

Oxford Desk Reference Clinical Genetics And Genomics written by Helen V. Firth and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-08 with Medical categories.


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.



Inborn Errors Of Development


Inborn Errors Of Development
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Author : Charles J. Epstein
language : en
Publisher: Oxford University Press, USA
Release Date : 2008

Inborn Errors Of Development written by Charles J. Epstein and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Medical categories.


Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.



Harrison S Principles Of Internal Medicine Twenty Second Edition Vol 1 Vol 2


Harrison S Principles Of Internal Medicine Twenty Second Edition Vol 1 Vol 2
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Author : Joseph Loscalzo
language : en
Publisher: McGraw Hill Professional
Release Date : 2025-07-18

Harrison S Principles Of Internal Medicine Twenty Second Edition Vol 1 Vol 2 written by Joseph Loscalzo and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2025-07-18 with Medical categories.


The acclaimed, landmark guide to internal medicine—updated to reflect the latest guidelines and recommendations The Voice of Clinical Reason For more than seven decades, Harrison’s Principles of Internal Medicine has provided healthcare professionals with the informational foundation needed to provide optimal patient care. The world’s leading authority on applied pathophysiology and clinical medicine, this trusted resource has covered countless advances and developments across the full span of medicine. Fully updated, the new 22nd edition has been modified extensively in its structure and content and offers a standardized format for each disease chapter. The authors and editors have curated and synthesized the vast amount of information that comprises general internal medicine and each of the major specialties into a highly readable and informative resource. Harrison’s is world-renowned as the most authoritative source for: • Descriptions of disease mechanisms and how the clinician can apply that knowledge for the best patient care and optimal diagnosis and treatment of specific diseases • Clear, concise schemas that facilitate the generation of differential diagnoses to reason efficiently through complex real world clinical cases • The physiologic and epidemiologic basis of signs and symptoms, which are covered through a wealth of unsurpassed expert guidance and linked to the disease-specific chapters that follow • Updated clinical trial results and recommended guidelines • Excellent and extensive visual support, including radiographs, clinical photos, schematics, and high-quality drawings • Coverage of both therapeutic approaches and specific treatment regimens • Practical clinical decision trees and algorithms • Organ- and system-specific sections, with clinically relevant pathophysiology and practical clinical advice on the approach to the patient, strategies towards building a differential diagnosis, outstanding clinical algorithms and diagnostic schema, a wealth of clinical images and diagrams, current clinical guidelines, as well as general and specific approaches to therapy This twenty-second edition features: • Updated content that reflects new approved therapeutics and new practice-changing guidelines and evidence summaries • More than 3,000, clinical, pathological, and radiographic photographs, diagnostic and therapeutic decision trees, and clear schematics and diagrams describing pathophysiologic processes • Numerous atlases featuring curated collections of important visual aspects of diagnosis and management • Brand new chapters, including The Value of the Physical Examination in Modern Medicine, Physician Well-Being, Exercise Intolerance, Primary and Secondary Hemophagocytic Lymphohistiocytosis, Symptom Control in Patients with Cancer, Principles of Immunization, COVID and Other Coronavirus Infections, Desensitization, Point-of-Care Ultrasound, Placebo and Nocebo Effects, Bedside Examination Tests in the Patient with Low Back Pain, and Antithrombotic Therapy in Adult Patients