Genomics of Rare Diseases

Genomics of Rare Diseases PDF Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318

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Book Description
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

Genomics of Rare Diseases

Genomics of Rare Diseases PDF Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318

Get Book Here

Book Description
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

Final program & book of abstracts

Final program & book of abstracts PDF Author:
Publisher:
ISBN:
Category :
Languages : en
Pages : 0

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Book Description


Croatia

Croatia PDF Author:
Publisher: Frances Lincoln
ISBN: 9780711229211
Category : Architecture
Languages : en
Pages : 0

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Book Description
This volume is the first scholarly study in the English language of Croatia's extraordinary artistic heritage. Leading specialists analyse the key cultural developments in this small country's history, from the extensive Roman remains on the Adriatic coast, through the gothic splendour of the Dalmatian cities in the Middle Ages and intensive artistic exchange with Italy during the Renaissance, to the grand houses and art collections of continental Croatia. The essays address iconic monuments like Diocletian's palace at Split and the walled city of Dubrovnik alongside more unfamiliar treasures, some never published before. This books sets Croatia's cultural past in context, reflecting the country's unique history at the crossroads between Italy, Central Europe and the Mediterranean. With contributions by leading British, American and Croatian writers and scholars, including John Julius Norwich, Timothy Clifford, Marcus Binney, Brian Sewell and Sheila McNally this book presents for the first time a portrait of the culture of this captivating and too little known country.

India's Israel Policy

India's Israel Policy PDF Author: P. R. Kumaraswamy
Publisher: Columbia University Press
ISBN: 0231525486
Category : Political Science
Languages : en
Pages : 377

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Book Description
India's foreign policy toward Israel is a subject of deep dispute. Throughout the twentieth century arguments have raged over the Palestinian problem and the future of bilateral relations. Yet no text comprehensively looks at the attitudes and policies of India toward Israel, especially their development in conjunction with history. P. R. Kumaraswamy is the first to account for India's Israel policy, revealing surprising inconsistencies in positions taken by the country's leaders, such as Mahatma Gandhi and Jawaharlal Nehru, and tracing the crackling tensions between its professed values and realpolitik. Kumaraswamy's findings debunk the belief that India possesses a homogenous policy toward the Middle East. In fact, since the early days of independence, many within India have supported and pursued relations with Israel. Using material derived from archives in both India and Israel, Kumaraswamy investigates the factors that have hindered relations between these two countries despite their numerous commonalities. He also considers how India destabilized relations, the actions that were necessary for normalization to occur, and the directions bilateral relations may take in the future. In his most provocative argument, Kumaraswamy underscores the disproportionate affect of anticolonial sentiments and the Muslim minority on shaping Indian policy.

Exclusion and Discrimination

Exclusion and Discrimination PDF Author: Sudhakara Karakoti
Publisher:
ISBN: 9788184572247
Category : Discrimination
Languages : en
Pages : 422

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Book Description


Forest Landscape Design

Forest Landscape Design PDF Author: Great Britain. Forestry Commission
Publisher:
ISBN:
Category : Afforestation
Languages : en
Pages : 36

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Book Description
Forest Landscape Design Guidelines

Archaeology and Urban Settlement in Late Roman and Byzantine Anatolia

Archaeology and Urban Settlement in Late Roman and Byzantine Anatolia PDF Author: John Haldon
Publisher: Cambridge University Press
ISBN: 1316998002
Category : Social Science
Languages : en
Pages : 409

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Book Description
The site of medieval Euchaïta, on the northern edge of the central Anatolian plateau, was the centre of the cult of St Theodore Tiro ('the Recruit'). Unlike most excavated or surveyed urban centres of the Byzantine period, Euchaïta was never a major metropolis, cultural centre or extensive urban site, although it had a military function from the seventh to ninth centuries. Its significance lies precisely in the fact that as a small provincial town, something of a backwater, it was probably more typical of the 'average' provincial Anatolian urban settlement, yet almost nothing is known about such sites. This volume represents the results of a collaborative project that integrates archaeological survey work with other disciplines in a unified approach to the region both to enhance understanding of the history of Byzantine provincial society and to illustrate the application of innovative approaches to field survey.

The Byzantine Economy

The Byzantine Economy PDF Author: Angeliki E. Laiou
Publisher: Cambridge University Press
ISBN: 1139465759
Category : History
Languages : en
Pages : 241

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Book Description
This is a concise survey of the economy of the Byzantine Empire from the fourth century AD to the fall of Constantinople in 1453. Organised chronologically, the book addresses key themes such as demography, agriculture, manufacturing and the urban economy, trade, monetary developments, and the role of the state and ideology. It provides a comprehensive overview of the economy with an emphasis on the economic actions of the state and the productive role of the city and non-economic actors, such as landlords, artisans and money-changers. The final chapter compares the Byzantine economy with the economies of western Europe and concludes that the Byzantine economy was one of the most successful examples of a mixed economy in the pre-industrial world. This is the only concise general history of the Byzantine economy and will be essential reading for students of economic history, Byzantine history and medieval history more generally.

Second International Conference on Environmental Mutagens in Human Populations

Second International Conference on Environmental Mutagens in Human Populations PDF Author:
Publisher:
ISBN:
Category : Carcinogens
Languages : en
Pages : 296

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Book Description


Integrating New Technologies for Striga Control

Integrating New Technologies for Striga Control PDF Author: Gebisa Ejeta
Publisher: World Scientific
ISBN: 9812707085
Category : Science
Languages : en
Pages : 356

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Book Description
Witchweeds (Striga species) decimate agriculture in much of Africa and parts of Asia, attacking the major cereal grains and legumes, and halving the already very low yields of subsistence farmers. Several years of research have provided promising technologies, based on the fundamental biology of the parasite?host associations, for dealing with this scourge. However, there is an apparent realization that these technologies will fail because highly successful weeds such as Striga evolve resistance to all types of controls unless proven methods are integrated with each other for a more sustainable solution.Integration is often an anathema to basic scientists who typically deal with single variables and solutions. However, key leaders in the development of the new knowledge-based control strategies, already in the field and under development, recently joined forces to develop strategies and projects in order to integrate the technologies in a symposium in Ethiopia in November 2006. The encouraging results are described in this peer-reviewed book, authored by leaders in the field who have been supplying the basic biology, genetics, biochemistry, and molecular information that have offered insights and generated technologies in how to deal with Striga.