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This book is a comprehensive, empirically-grounded exploration of the relationship between bioethics, culture, and the perspective of being affected. It provides a new outlook on how complex “bioethical” issues become questions of everyday life. The...
This comprehensive volume explores human genetic engineering its pre-clinical and clinical applications, current developments, and as treatment for hereditary diseases. It presents and evaluates the most recent advances in the understanding of mammalian host DNA repair...
The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential...
This book discusses the different regulatory pathways for gene therapy (GT) and cell therapy (CT) medicinal products implemented by national and international bodies throughout the world (e.g. North and South America, Europe, and Asia). Each chapter, authored by experts...
This book presents a common principle of actions of long noncoding RNAs (lncRNAs) from points of view at the atomic, molecular and cellular levels. At the atomic level, chemical studies of ribonucleic acids explain the chemical behavior of lncRNAs. Structural biological...
Motor dysfunction and cognitive impairment are major symptoms in both Huntington’s Disease (HD) and Parkinson’s Disease (PD). A breakthrough in HD research was the identification of the gene that causes this devastating monogenetic illness. Similarly, several genes were...
Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and...
The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made...
Knowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conceptional, prenatal, and predictive testing. While new genetic testing offers better insight into the causes of and susceptibility for heritable diseases, not all...
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's...
Genetic Counseling Research: A Practical Guide is the first text devoted to research methodology in genetic counseling. This text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings.Genetic counseling...
Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, pedagogical approach shines a unique light on the ethical, psychosocial, and policy...
Thoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural anomalies, or genetic...
The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in...
Progress in molecular and cellular biology has greatly enhanced our ability to accurately diagnose diseases that are caused by gene mutations, changes in genome structures, and altered gene expression; increased emphasis is now placed on translational research and the...
This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new...
Communicating with patients about genetic concepts is fraught with complications. In addition to the hazy takeaway messages and the likelihood of peripheral findings, the diverse cultural backgrounds of patients in a genetics clinic present another layer of challenge...
The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner....
Biotechnology is a recognized research area that has increasingly advanced into new technologies and modern practices raising several legal, ethical and regulatory issues. The revolutionary speed of biotech innovations has had a significant impact on the protection of...
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