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An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory...Savoir plus
Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic...Savoir plus
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of ...Savoir plus
The third edition of The Genetics of Neurological Disorders incorporates the most recent advances in genetics into this comprehensive reference. The c...Savoir plus
Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developme...Savoir plus
Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers a...Savoir plus
Advances in genetics over the past 50 years have been dramatically changed the understanding and management of inherited disorders, and are beginning ...Savoir plus
Several general principles have emerged from the study of human transcription factors. First, germline mutations in genes encoding transcription facto...Savoir plus
This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, a...Savoir plus
Psychosocial issues are integral to all genetic counseling interactions. They include counselees' beliefs about the cause of birth defects and genetic...Savoir plus
Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic ...Savoir plus
Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in c...Savoir plus
The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and predicti...Savoir plus
With the accelerating discovery of human genes, public health professionals are increasingly confronted with a large body of scientific information th...Savoir plus
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, th...Savoir plus
There have been many exciting advances in our understanding of mammalian sex determination and differentiation in the last decade. Using these advance...Savoir plus
Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approa...Savoir plus
When rediscovered at the turn of the century, Mendel's laws were found to be applicable to humans, but from the beginning they were fraught with probl...Savoir plus
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. T...Savoir plus
Molecular genetics has revolutionised our understanding of human disease and nowhere is this more apparent than the group of diseases caused by mitoch...Savoir plus
This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific ...Savoir plus
The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Aut...Savoir plus
This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing lo...Savoir plus
This new book will enable family practitioners, obstetricians and pediatricians to answer the concerns of the families in their care. It is the first ...Savoir plus