Medicinsk genetik
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Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the …
BACK COVER COPY This third edition of The Genetics of Neurological Disorders incorporates the recent advances in genetics and molecular genetics into this comprehensive classic …
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 …
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 common adult disease, and we …
Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental …
Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of …
Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major …
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth …
Advances in genetics over the past 50 years have dramatically changed the understanding and management of inherited disorders, and are beginning to have a major impact on the …
Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic counselling. Active …