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Current Catalog
First multi-year cumulation covers six years: 1965-70.
Atlas of X-Linked Intellectual Disability Syndromes
The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Multiple Congenital Anomalies
The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be ...
Companion to Clinical Neurology
Designed for the neurologist who needs to have at hand an authoritative guide to the diagnostic criteria for all the conditions he or she may meet within clinical practice, this book also includes definitions of practically all the terms that are used in neurology today.
Body, Language, and Mind: Sociocultural situatedness
Includes papers, which introduce and elaborate upon the concept of sociocultural situatedness, understood as the way in which minds and cognitive processes are shaped, both individually and collectively, and by their interaction with culturally contextualized structures and practices.
Genetic Disorders of Human Sexual Development
There have been many advances in understanding mammalian sex determination and differentiation during the last decade. Using these advances to elucidate clinical conditions of abnormal sexual development, the authors of this book bring together expertise in molecular endocrinology, molecular genetics, and dysmorphology. This is not a conventional textbook. It is seldom dogmatic, frequently presents alternatives, highlights speculation, raises questions, and attempts to provide answers. This book will be welcomed by medical geneticists, genetic counselors, endocrinologists, gynecologists, urologists, and students who need fully-referenced information about the genetic aspects of human sexual maldevelopment in order to better manage their patients and their patients' families.
Genetic Consultations in the Newborn
As demand continues to exceed availability when it comes to clinical geneticists, "Genetic Consultations in the Newborn" offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. -- From publisher's description.
Non-mendelian Genetics in Humans
This book addresses the basic mechanisms for the transmission of genetic disorders in humans, and explores the evidence for a number of non-Mendelian genetic processes such as gonadal and somatic mosaicism, sex-linked inheritance, mitochondrial transmission, genomic imprinting, accelerated rates of mutation, and viral infection. In additional to an examination of the molecular basis for these processes and their effects on transmission and phenotype, the authors show how they resolve many of the exceptions to Mendelian inheritance. The book includes a complete review of Mendelian genetics and an overview on the structure and function of genes, chromosomes, and their products. transmission of genetic disorders in humans, stressing such non-Mendelian processes as mitochondrial inheritance, genomic imprinting and dynamic mutation.
Embryos, Genes and Birth Defects
The first edition of Embryos, Genes and BirthDefects, edited by the late Peter Thorogood, was a radicalnew book aimed at bridging the gap between the medical disciplinesof embryology and dysmorphology, and recent advances in cellular,molecular and developmental biology. This new edition remainsunique in its breadth and brings up to date our understanding ofbirth defects and of the strategies utilized to gain suchknowledge. It features new chapters on human cytogenetics,mutagenesis and the eyes and ears. The book presents key topics in developmental biology andexplains how they provide the foundations for understandingclinical birth defects. The first six chapters introduce conceptsand strate...
Not a Chimp
Humans are primates, and our closest relatives are the other African apes - chimpanzees closest of all. With the mapping of the human genome, and that of the chimp, a direct comparison of the differences between the two, letter by letter along the billions of As, Gs, Cs, and Ts of the DNA code, has led to the widely vaunted claim that we differ from chimps by a mere 1.6% of our genetic code. A mere hair's breadth genetically! To a rather older tradition of anthropomorphizing chimps, trying to get them to speak, dressing them up for 'tea parties', was added the stamp of genetic confirmation. It also began an international race to find that handful of genes that make up the difference - the ge...
