Deletions

Download Deletions full books in PDF, epub, and Kindle. Read online Deletions ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

The Chromosome 22q11.2 Deletion Syndrome

Author : Donna M. McDonald-McGinn
Publisher : Academic Press
ISBN 13 : 0128160489
Total Pages : 526 pages
Book Rating : 4.1/5 (281 download)

DOWNLOAD NOW!

Book Synopsis The Chromosome 22q11.2 Deletion Syndrome by : Donna M. McDonald-McGinn

Download or read book The Chromosome 22q11.2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making

Genomic Disorders

Author : James R. Lupski
Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)

DOWNLOAD NOW!

Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

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)

DOWNLOAD NOW!

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.

Mitochondrial Medicine

Author : Saskia Koene
Publisher :
ISBN 13 : 9789081773706
Total Pages : 135 pages
Book Rating : 4.7/5 (737 download)

DOWNLOAD NOW!

Book Synopsis Mitochondrial Medicine by : Saskia Koene

Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Master protocol for surveillance of pfhrp2/3 deletions and biobanking to support future research

Author : World Health Organization
Publisher : World Health Organization
ISBN 13 : 9240002057
Total Pages : 47 pages
Book Rating : 4.2/5 (4 download)

DOWNLOAD NOW!

Book Synopsis Master protocol for surveillance of pfhrp2/3 deletions and biobanking to support future research by : World Health Organization

Download or read book Master protocol for surveillance of pfhrp2/3 deletions and biobanking to support future research written by World Health Organization and published by World Health Organization. This book was released on 2020-03-24 with total page 47 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rapid diagnostic test (RDT) kits offer great potential for the immediate diagnosis of malaria infections. Rapid diagnosis allows for prompt treatment, especially in rural settings. Histidine rich protein 2 (HRP2) is an abundant protein expressed only by P. falciparum and is the target for the most commonly used RDTs. While HRP2 RDTs generally have the highest sensitivity of the RDTs for P. falciparum malaria, parasite strains in several countries have been identified that have deletions in the genes encoding HRP2 or the similar HRP3 protein. The purpose of this document is to present an updated standardized protocol that P. falciparum-endemic countries can use to determine the prevalence of parasites with pfhrp2/3 gene deletions causing negative HRP2 RDT results among symptomatic falciparum patients. Two versions are available which allow for a surveillance-only approach or a surveillance combined with biobanking for future research approach.

Missing Genetic Pieces

Author : Sherry Baker-Gomez
Publisher : Missing Genetic Pieces
ISBN 13 : 9780974535807
Total Pages : 580 pages
Book Rating : 4.5/5 (358 download)

DOWNLOAD NOW!

Book Synopsis Missing Genetic Pieces by : Sherry Baker-Gomez

Download or read book Missing Genetic Pieces written by Sherry Baker-Gomez and published by Missing Genetic Pieces. This book was released on 2004 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.

Human Chromosomes

Author : Orlando J. Miller
Publisher : Springer Science & Business Media
ISBN 13 : 1461301394
Total Pages : 508 pages
Book Rating : 4.4/5 (613 download)

DOWNLOAD NOW!

Book Synopsis Human Chromosomes by : Orlando J. Miller

Download or read book Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.

White Reconstruction

Author : Dylan Rodriguez
Publisher : Fordham University Press
ISBN 13 : 0823289400
Total Pages : 207 pages
Book Rating : 4.8/5 (232 download)

DOWNLOAD NOW!

Book Synopsis White Reconstruction by : Dylan Rodriguez

Download or read book White Reconstruction written by Dylan Rodriguez and published by Fordham University Press. This book was released on 2020-10-27 with total page 207 pages. Available in PDF, EPUB and Kindle. Book excerpt: A “compelling study” of how the idea of white supremacy persists long after the Civil Rights Act—“as thoughtful as it is fierce” (David Roediger, author of The Sinking Middle Class: A Political History). We are in the fray of another signature moment in the long history of the United States as a project of anti Black and racial–colonial violence. Long before November 2016, white nationalism, white terrorism, and white fascist statecraft proliferated. Thinking across a variety of archival, testimonial, visual, and activist texts—from Freedmen’s Bureau documents and the “Join LAPD” hiring campaign to Barry Goldwater’s hidden tattoo and the Pelican Bay prison strike—Dylan Rodríguez counter-narrates the long “post–civil rights” half-century as a period of White Reconstruction, in which the struggle to reassemble the ascendancy of White Being permeates the political and institutional logics of diversity, inclusion, formal equality, and “multiculturalist white supremacy.” Throughout White Reconstruction, Rodríguez considers how the creative, imaginative, speculative collective labor of abolitionist praxis can displace and potentially destroy the ascendancy of White Being and Civilization in order to create possibilities for insurgent thriving.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

DOWNLOAD NOW!

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

Flexible Imputation of Missing Data, Second Edition

Author : Stef van Buuren
Publisher : CRC Press
ISBN 13 : 0429960352
Total Pages : 444 pages
Book Rating : 4.4/5 (299 download)

DOWNLOAD NOW!

Book Synopsis Flexible Imputation of Missing Data, Second Edition by : Stef van Buuren

Download or read book Flexible Imputation of Missing Data, Second Edition written by Stef van Buuren and published by CRC Press. This book was released on 2018-07-17 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: Missing data pose challenges to real-life data analysis. Simple ad-hoc fixes, like deletion or mean imputation, only work under highly restrictive conditions, which are often not met in practice. Multiple imputation replaces each missing value by multiple plausible values. The variability between these replacements reflects our ignorance of the true (but missing) value. Each of the completed data set is then analyzed by standard methods, and the results are pooled to obtain unbiased estimates with correct confidence intervals. Multiple imputation is a general approach that also inspires novel solutions to old problems by reformulating the task at hand as a missing-data problem. This is the second edition of a popular book on multiple imputation, focused on explaining the application of methods through detailed worked examples using the MICE package as developed by the author. This new edition incorporates the recent developments in this fast-moving field. This class-tested book avoids mathematical and technical details as much as possible: formulas are accompanied by verbal statements that explain the formula in accessible terms. The book sharpens the reader’s intuition on how to think about missing data, and provides all the tools needed to execute a well-grounded quantitative analysis in the presence of missing data.

Wikipedia: The Missing Manual

Author : John Broughton
Publisher : "O'Reilly Media, Inc."
ISBN 13 : 0596553773
Total Pages : 506 pages
Book Rating : 4.5/5 (965 download)

DOWNLOAD NOW!

Book Synopsis Wikipedia: The Missing Manual by : John Broughton

Download or read book Wikipedia: The Missing Manual written by John Broughton and published by "O'Reilly Media, Inc.". This book was released on 2008-01-25 with total page 506 pages. Available in PDF, EPUB and Kindle. Book excerpt: Want to be part of the largest group-writing project in human history? Learn how to contribute to Wikipedia, the user-generated online reference for the 21st century. Considered more popular than eBay, Microsoft.com, and Amazon.com, Wikipedia servers respond to approximately 30,000 requests per second, or about 2.5 billion per day. It's become the first point of reference for people the world over who need a fact fast. If you want to jump on board and add to the content, Wikipedia: The Missing Manual is your first-class ticket. Wikipedia has more than 9 million entries in 250 languages, over 2 million articles in the English language alone. Each one is written and edited by an ever-changing cast of volunteer editors. You can be one of them. With the tips in this book, you'll quickly learn how to get more out of -- and put more into -- this valuable online resource. Wikipedia: The Missing Manual gives you practical advice on creating articles and collaborating with fellow editors, improving existing articles, and working with the Wikipedia community to review new articles, mediate disputes, and maintain the site. Up to the challenge? This one-of-a-kind book includes: Basic editing techniques, including the right and wrong ways to edit Pinpoint advice about which types of articles do and do not belong on Wikipedia Ways to learn from other editors and communicate with them via the site's talk pages Tricks for using templates and timesaving automated editing tools Recommended procedures for fighting spam and vandalism Guidance on adding citations, links, and images to your articles Wikipedia depends on people just like you to help the site grow and maintain the highest quality. With Wikipedia: The Missing Manual, you get all the tools you need to be part of the crew.

Secondary Schizophrenia

Author : Perminder S. Sachdev
Publisher : Cambridge University Press
ISBN 13 : 1139485229
Total Pages : pages
Book Rating : 4.1/5 (394 download)

DOWNLOAD NOW!

Book Synopsis Secondary Schizophrenia by : Perminder S. Sachdev

Download or read book Secondary Schizophrenia written by Perminder S. Sachdev and published by Cambridge University Press. This book was released on 2010-02-04 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.

WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction

Author : World Health Organisation
Publisher : Cambridge University Press
ISBN 13 : 9780521645997
Total Pages : 150 pages
Book Rating : 4.6/5 (459 download)

DOWNLOAD NOW!

Book Synopsis WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction by : World Health Organisation

Download or read book WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction written by World Health Organisation and published by Cambridge University Press. This book was released on 1999-05-13 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive and essential source of reference for all laboratories involved in the analysis of human semen.

ISCN 2013

Author : International Standing Committee on Human Cytogenetic Nomenclature
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318022535
Total Pages : 148 pages
Book Rating : 4.3/5 (18 download)

DOWNLOAD NOW!

Book Synopsis ISCN 2013 by : International Standing Committee on Human Cytogenetic Nomenclature

Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Plant Genome Editing with CRISPR Systems

Author : Yiping Qi
Publisher : Springer Nature
ISBN 13 : 149398991X
Total Pages : 360 pages
Book Rating : 4.4/5 (939 download)

DOWNLOAD NOW!

Book Synopsis Plant Genome Editing with CRISPR Systems by : Yiping Qi

Download or read book Plant Genome Editing with CRISPR Systems written by Yiping Qi and published by Springer Nature. This book was released on 2019-01-04 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides readers with wide-ranging coverage of CRISPR systems and their applications in various plant species. The chapters in this book discuss topics such as plant DNA repair and genome editing; analysis of CRISPR-induced mutations; multiplexed CRISPR/Cas9 systems; CRISPR-Cas12a (Cpf1) editing systems; and non-agrobacterium based CRISPR delivery systems. Written in the highly successful Methods in Molecular Biology series format, 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. Comprehensive and thorough, Plant Genome Editing with CRISPR Systems: Methods and Protocols is a valuable resource for any researcher interested in learning about and using CRISPR systems in plants.

Surveillance template protocol for pfhrp2/pfhrp3 gene deletions

Author : World Health Organization
Publisher : World Health Organization
ISBN 13 : 9240002030
Total Pages : 36 pages
Book Rating : 4.2/5 (4 download)

DOWNLOAD NOW!

Book Synopsis Surveillance template protocol for pfhrp2/pfhrp3 gene deletions by : World Health Organization

Download or read book Surveillance template protocol for pfhrp2/pfhrp3 gene deletions written by World Health Organization and published by World Health Organization. This book was released on 2020-03-04 with total page 36 pages. Available in PDF, EPUB and Kindle. Book excerpt:

DNA Methylation and Complex Human Disease

Author : Michel Neidhart
Publisher : Academic Press
ISBN 13 : 0127999205
Total Pages : 546 pages
Book Rating : 4.1/5 (279 download)

DOWNLOAD NOW!

Book Synopsis DNA Methylation and Complex Human Disease by : Michel Neidhart

Download or read book DNA Methylation and Complex Human Disease written by Michel Neidhart and published by Academic Press. This book was released on 2015-08-11 with total page 546 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA Methylation and Complex Human Disease reviews the possibilities of methyl-group-based epigenetic biomarkers of major diseases, tailored epigenetic therapies, and the future uses of high-throughput methylome technologies. This volume includes many pertinent advances in disease-bearing research, including obesity, type II diabetes, schizophrenia, and autoimmunity. DNA methylation is also discussed as a plasma and serum test for non-invasive screening, diagnostic and prognostic tests, as compared to biopsy-driven gene expression analysis, factors which have led to the use of DNA methylation as a potential tool for determining cancer risk, and diagnosis between benign and malignant disease. Therapies are at the heart of this volume and the possibilities of DNA demethylation. In cancer, unlike genetic mutations, DNA methylation and histone modifications are reversible and thus have shown great potential in the race for effective treatments. In addition, the authors present the importance of high-throughput methylome analysis, not only in cancer, but also in non-neoplastic diseases such as rheumatoid arthritis. Discusses breaking biomarker research in major disease families of current health concern and research interest, including obesity, type II diabetes, schizophrenia, and autoimmunity Summarizes advances not only relevant to cancer, but also in non-neoplastic disease, currently an emerging field Describes wholly new concepts, including the linking of metabolic pathways with epigenetics Provides translational researchers with the knowledge of both basic research and clinic applications of DNA methylation in human diseases