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- Elsevier Health Sciences 2009; US$ 68.99
Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications.... more...
- Springer Berlin Heidelberg 2015; US$ 91.95
In this book, leading experts provide detailed descriptions of the exciting treatments that are expected to become part of the ophthalmologist?s arsenal within the next 10?20 years. The treatments discussed relate to a wide variety of conditions, including macular degeneration, Leber?s congenital amaurosis, retinitis pigmentosa, choroideremia, and... more...
- Oxford University Press 2005; US$ 94.99
During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science... more...
- Springer International Publishing 2015; US$ 126.83
This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section... more...
- Oxford University Press 2015; US$ 67.99
The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential diagnosis of highly nuanced elements of dysmorphology. Narrated by a world-class... more...
New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America,Elsevier Health Sciences 2015; US$ 98.99
Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations... more...
- Profile Books 2010; US$ 11.98
We are in the midst of a medical revolution: in just a few years, we will be able to have our complete DNA sequenced at an affordable cost. Analysing the content of our genomes will allow a powerful estimate of our future risks of illness - from cystic fibrosis and Huntington's disease, to cancer and diabetes - which will help us devise our own personalised... more...
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology,Elsevier Health Sciences 2015; US$ 99.00
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal... more...
- Elsevier Science 2015; US$ 125.00
Epigenetic Biomarkers and Diagnostics comprises 31 chapters contributed by leading active researchers in basic and clinical epigenetics. The book begins with the basis of epigenetic mechanisms and descriptions of epigenetic biomarkers that can be used in clinical diagnostics and prognostics. It goes on to discuss classical methods and next generation... more...