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Mitochondrial Case Studies

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Mitochondrial Case Studies

Mitochondrial Case Studies Book
Author : Russell Saneto,Sumit Parikh,Bruce H Cohen
Publisher : Academic Press
Release : 2015-11-24
ISBN : 0128011491
Language : En, Es, Fr & De

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Book Description :

Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments. Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis Provides information on underlying mechanisms of mitochondrial disease Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process

Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium Book
Author : Marni J. Falk
Publisher : Academic Press
Release : 2020-05
ISBN : 0128200294
Language : En, Es, Fr & De

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Book Description :

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research.

Biochemistry and Experimental Biology

Biochemistry and Experimental Biology Book
Author : Anonim
Publisher : Unknown
Release : 1977
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Biochemistry and Experimental Biology book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Cumulated Index Medicus

Cumulated Index Medicus Book
Author : Anonim
Publisher : Unknown
Release : 1988
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Cumulated Index Medicus book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Case Studies in Pediatric Intensive Care

Case Studies in Pediatric Intensive Care Book
Author : Mark C. Rogers,Mark A. Helfaer
Publisher : Unknown
Release : 1993
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

This book has been compiled with two goals in mind. First, it is directed to physicians in training. The hope is to expose young doctors to the interesting breadth and complexity of the patients who present to the pediatric intensive care unit. This is directed at any level of training. Starting pediatric interns can be exposed to a far greater number of cases than they would encounter just by sequentially admitting their portion of the patients. Likewise, senior fellows will benefit from the experiences of a great number of PICUs around the world.

Case Studies in General and Systematic Pathology

Case Studies in General and Systematic Pathology Book
Author : James C. E. Underwood
Publisher : Unknown
Release : 1996
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

A collection of 60 case studies, each presented as a common clinical problem, with some intriguing titles, including: 'He's just not himself anymore' and 'My leg gave way'. Each case history takes form of a narrative interrupted by questions with the relevant answers alongside. With its problem-based approach, it helps students appreciate the correct path to diagnosis of the pathological signs and symptoms. An excellent revision companion, each case has a revision box of key topics linked in to the main textbook so the student can refer to it for more details. Although the case studies correspond to chapters in the main textbook (three cases per chapter), the reader approaches each case as they would present in life, symptom-first. Illustrated throughout with full color gross and histopathological photographs as well as clinical photographs, radiographs and line diagrams, this book has an instant visual appeal and presents the subject in a refreshing and innovative way.

Journal of the National Cancer Institute

Journal of the National Cancer Institute Book
Author : Anonim
Publisher : Unknown
Release : 1950
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Journal of the National Cancer Institute book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Case Studies in Ecological Genetics

Case Studies in Ecological Genetics Book
Author : Michael Hans Kohn
Publisher : Unknown
Release : 2000
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Case Studies in Ecological Genetics book written by Michael Hans Kohn, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Fishery Bulletin

Fishery Bulletin Book
Author : Anonim
Publisher : Unknown
Release : 2001
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Fishery Bulletin book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

International Journal of Fertility

International Journal of Fertility Book
Author : Anonim
Publisher : Unknown
Release : 1972
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Most issues include Current bibliography index of mammalian reproduction.

Nature Encyclopedia of the Human Genome Genome databases Mitochondrial genome Evolution

Nature Encyclopedia of the Human Genome  Genome databases   Mitochondrial genome  Evolution Book
Author : David Neil Cooper
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

The recent completion of important phases of the Human Genome Project heralds a new era in biomedical research, ensuring that human genetics will remain at the forefront of the public, scientific and educational consciousness. 'The Nature Encyclopedia of the Human Genome' (Nature EHG) will be the first major reference resource devoted entirely to the scientific basis and ethical, philosophical and commercial ramifications of genome research. Nature EHG will contain 1,000 articles, specially written by the world's leading experts and structured in such a way that different subsets will be useful to students, teachers, academics, researchers, and other professionals. The articles will be extensively cross-referenced and indexed and will contain many tables and illustrations. Areas to be covered include structural genomics, functional genomics, evolution and comparative genomics, genome mapping and sequencing, chromosome structure and function, population and mathematical genetics, bioinformatics, proteomics, genes and disease, behavioural and psychiatric genetics and ethical, legal and social issues.

Biology of Reproduction

Biology of Reproduction Book
Author : Joseph Thomas Velardo
Publisher : Unknown
Release : 1972
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Biology of Reproduction book written by Joseph Thomas Velardo, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Proteins

The Proteins Book
Author : Hans Neurath
Publisher : Unknown
Release : 1963
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download The Proteins book written by Hans Neurath, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genome Research

Genome Research Book
Author : Anonim
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genome Research book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Myology

Myology Book
Author : Andrew Engel,Betty Q. Banker
Publisher : Unknown
Release : 1986
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Myology book written by Andrew Engel,Betty Q. Banker, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Bulletin of the National Science Museum

Bulletin of the National Science Museum Book
Author : Kokuritsu Kagaku Hakubutsukan (Japan)
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Bulletin of the National Science Museum book written by Kokuritsu Kagaku Hakubutsukan (Japan), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Achievements and Perspectives of Mitochondrial Research Biogenesis

Achievements and Perspectives of Mitochondrial Research  Biogenesis Book
Author : Ernesto Quagliariello
Publisher : Elsevier Science & Technology
Release : 1985
ISBN : 9780444807465
Language : En, Es, Fr & De

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Book Description :

Download Achievements and Perspectives of Mitochondrial Research Biogenesis book written by Ernesto Quagliariello, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Use of Mammalian Mitochondrial Electron Transport Particles to Detect Toxic Substances in Fresh Water and Evaluate Chemical Toxicity

Use of Mammalian Mitochondrial Electron Transport Particles to Detect Toxic Substances in Fresh Water and Evaluate Chemical Toxicity Book
Author : Lynda Knobeloch
Publisher : Unknown
Release : 1988
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Use of Mammalian Mitochondrial Electron Transport Particles to Detect Toxic Substances in Fresh Water and Evaluate Chemical Toxicity book written by Lynda Knobeloch, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Case Studies of the Management of Elasmobranch Fisheries

Case Studies of the Management of Elasmobranch Fisheries Book
Author : Food and Agriculture Organization of the United Nations
Publisher : Fao
Release : 1999
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

This report describes the population biology and fishery management of elasmobranchs at regional, national and sub-regional levels - in Atlantic Europe, the United States, the Caribbean, Guatemala, South Africa, Uruguay, the Falkland Islands, the Seychelles, two states in India, the Maldives, Malaysia, Australia, New Zealand, Japan, Fiji and Ecuador. Regional accounts are given of management of Galeorhinus galeus, deepwater sharks and elasmobranch considerations of a tuna commission. NGO elasmobranch activities are described and an analysis of the quality of the relevant data in the FAO Nominal Catches and Landings Data Base. The topics of the resource, fishery and associated species, current status of fisheries and harvesting processes are described together with the evolution of the catch, fleet, fishing effort, commerce, fishery markets and revenues from the fishery. Comments on the economics of the fishery and nature of the workforce are also given. In relation to fisheries administration, management objectives and national fisheries policies are described and the manner of the planning process. Where applicable, the objectives setting process, relevant stakeholders and the handling of management negotiations are noted. The nature of gear restrictions and their effectiveness together with vessel regulations and where they exist, on catch, closed seasons, effort limitations, etc., are described Where management planning occurs, the provision of resource management advice together with a description of the departments involved and management activities are described. Several papers review stock assessment activities plus descriptions and analyses of the biological advice review process with comments on the sustainability of the resource. National accounts describe the relevant law and enforcement processes. The report consists of two parts.