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Craniosynostoses
Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial sur...
Progress in Medical Genetics
Over the past decade, medical genetics has emerged as an important and powerful medical speciality with increasing appreciation of its role and function among the medical specialities. This emergence is related to a great extent to the progress in the Human Genome Project which promises wide ranging applications in the diagnosis, treatment and prevention of human diseases. Nevertheless, discussions about the role of genetics in preventive medicine and public health rightfully lead to ethical, legal and social concerns about general applicability of genetic testing in the population. The interpretation of the word prevention in the context of genetic diseases leads to the unavoidable discussions of genetic engineering, prenatal diagnosis and selective termination, as well as broader concerns about discrimination in health care coverage, employment and in society.
Beyond Borders: Myotonic Dystrophies – A European Perception
Myotonic dystrophies (DMs) are pleotropic multisystemic diseases. These dominantly transmitted repeat disorders affect multiple organs of the human body at all ages – from the newborns to the elderly. The present Research Topic represents a timely addition to the expanding body of evidence which aims to provide novel perspectives in our understanding of myotonic dystrophies. This collection of original contributions and standpoint reviews from multiple leading DM centres in Europe describes the state of the art for the characterization of the DMs diseases, the development of molecular strategies to target its multisystemic nature, and provides evidence of screening and testing novel therapeutic avenues.
Color Atlas of Genetics
Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visua...
Barevný atlas genetiky
5. anglické vydání vyšlo v nakladatelství Thieme v roce 2018. Vedle anglické a německé verze se kniha dočkala vydání v dalších 10 jazycích. Publikace patří do edice oblíbených atlasů a je založena na 186 barevných celostránkových obrazových tabulích, proti nimž figuruje vysvětlující text. Čtenář se tak dozví vše potřebné z oboru – jak obecně, tak o jednotlivých geneticky podmíněných nemocech. Kniha má tři části: Základy, Genomiku a Genetiku v lékařství. Překladu se skvěle zhostil tým odborníků z Ústavu biologie a lékařské genetiky 1. LF UK a VFN v Praze pod vedením doc. MUDr. Milady Kohoutové, CSc.
Mathematical Reviews
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