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This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
The new field of applied genetic research, genetic toxicology and mutation research investigates the mutagenicity and cancerogenicity of chemicals and other agents. Permanent changes in genes and chromosomes, or genome mutations, can be induced by a plethora of agents, including ionizing and nonionizing radiations, chemicals, and viruses. Mutagenesis research has two aims: (1) to understand the molecular mechanisms leading to mutations, and (2) to prevent a thoughtless introduction of mutagenic agents into our environment. Both aspects, namely, basic and applied, will be treated in the new series Advances in Mutagenesis Research.
The theory and application of mammalian genetics have been evolving rapidly over the past two decades. This has given scientists fresh insight into the biological processes which affect the functions of the animal in question. This is the latest title in our successful series of genetics books. Reference book providing a comprehensive review of the current research in horse geneticsChapters written by international experts in the field Of worldwide relevance
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Twenty five years ago the subject of male infertility scarcely existed in urological practice. At that time semen analysis was a rather cursory microscopic test, the scope of endocrine and hormone tests was limited and debate about the relevance of a varicocele was only just beginning. Since then, progress has owed about as much to sociological change as medical progress. Acceptance that problems of fertility should be shared between partners is now no longer questioned and the willingness of both husband and wife to recognise this and to seek help has been an important change in clinical practice. This book is concerned primarily with male infertility and it will be evident that this is now...
Psychosocial issues are integral to all genetic counseling interactions. They include counselees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxiety and guilt, and the complex process of decision making. Drawing on direct clinical experience and the growing body of relevant literature, Psychosocial Genetic Counseling provides a comprehensive, integrated approach to understanding these issues and their applications to genetic counseling. The book combines theoretical and practical approaches, including many clinical vignettes and examples of dialogue. It is written in an engaging style that...
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Every year there are new and exciting developments in assisted human reproduction, but how much do we really know about the underlying causes of infertility? This volume explores recent progress in the understanding of the genetics of spermatogenesis and male infertility. Topics include fundamental advances and current problems in the development and function of the testis, an outline of clinical findings in male infertility and an overview of the role of the Y chromosome in male fertility. Comprehensive critiques of posttranscriptional control during spermatogenesis, mammalian meiotic sterility, and comparative genetics of human spermatogenesis from the perspective of yeast, Drosophila and mice provide a global overview of the field.
This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrate...
This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed...