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- Springer International Publishing 2015; US$ 134.77
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 US$ 58.47
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...
- Springer Berlin Heidelberg 2013; US$ 37.75
Die 2. Auflage dieses Lehrbuches orientiert sche Teil auch an den niedergelassenen sich inhaltlich, wie bereits die Erstauflage Gynakologen und Padiater, Fur die prak von 1991, eng am Gegenstandskatalog tische arztliche Tatigkeit sollen hier Hin "Humangenetik" fur den Ersten Abschnitt weise gegeben werden, die umgekehrt den der Arztlichen Prufung,... more...
- Springer Berlin Heidelberg 2015; US$ 44.36
Durch neuartige und verbesserte Methoden zur molekulargenetischen Diagnostik kommt es immer häufiger zum Problem der genetischen ?Zufallsbefunde? (oder besser: Zusatzbefunde). Darunter versteht man Befunde oder Auffälligkeiten, die unabhängig von der ursprünglichen medizinischen Fragestellung oder aus wissenschaftlichen Studien heraus entstehen, jedoch... more...
- Springer International Publishing 2015; US$ 189.00
Nuclear Receptors focuses on the structural analysis of nuclear receptors from the initial work using isolated protein domains to the more recent exciting developments investigating the conformational shape of full-length receptor complexes. The book also reviews the structure of key nuclear receptor co-regulatory proteins. It brings together, for... more...
- Springer International Publishing 2015; US$ 109.00
This issue of Recent Results in Cancer Research presents a comprehensive review of current understanding of chromosomal instability in cancer and of strategies to use this information for better treatment of patients with cancer. Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating... more...