Tác giả: Schmid

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Cancer and other genetic human diseases are caused by a variety of mutations, ranging from subtle sequence changes to larger genomic rearrangements and alterations in chromosome number (aneuploidy). …

The publication of the first draft of the human genome five years ago marked the start of a new era of vertebrate comparative genomics. Genome draft sequences for chimpanzee, mouse, rat, dog, chicken …

Fanconi anemia (FA) is a rare genetic disease discovered 80 years ago by Guido Fanconi, an eminent Swiss pediatrician. It is characterized by short stature, skeletal anomalies, increased incidence of …

The experimental data that have been generated using new molecular techniques associated with the completion of genome projects have changed our perception of the structural features, functional impl …

Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness resear …

Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, …

Our way of understanding evolution has changed completely with the era of genomics, particularly since the emergence of comparative genomics, a discipline allowing the analysis of complete genomes an …

Recent major advances in the field of comparative genomics and cytogenomics of plants, particularly associated with the completion of ambitious genome projects, have uncovered astonishing facets of t …

The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on ne …

In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signallin …

Meiosis is a key event in the life of all sexually reproductive organisms. As a consequence of recombination and segregation of maternal and paternal sets of chromosomes, it represents the largest na …

‘Microbial Pathogenomics’ contains a unique collection of reviews demonstrating how genomics has revolutionized our understanding of virulence, host-adaptation strategies and the evolution of bacteri …

This remarkable publication focuses on the importance of genetics in mental retardation, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have …

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 deca …