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Medicinsk genetik
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Studies of both spontaneous and environmentally induced tumors have demonstrated that there is considerable variation among individuals in their response to carcinogenesis, …
This publication provides a comprehensive and up-to-date review of the significance of cytogenetic and molecular genetic abnormalities in the chronic myeloid leukaemias and other …
This new book reviews the latest advances in the embryology, genetics, diagnosis, imaging, and therapy of congenital heart disease. The international cast of authors has combined …
Corneal dystrophies (CD) are bilateral hereditary disorders of the cornea in which one or several parts of the cornea lose their transparency. As the dystrophy can start in …
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. …
Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild …
Advances in medicine have led to the survival of critically ill patients who would previously have died. The physiological response of patients to critical illness is becoming more …
The issues treated in this publication are brought together in this way for the first time. For many of the chronic diseases, familial predispositions are well established, and …
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, …
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 …