JIMD Reports – Case and Research Reports, 2012/3
SSIEM 2012
Continue reading →Category: Human Genetics
JIMD Reports – Case and Research Reports, 2012/2
SSIEM 2012
Continue reading →JIMD Reports – Case and Research Reports, 2012/1
SSIEM 2012
Continue reading →JIMD Reports – Case and Research Reports, 2011/3
SSIEM 2012
Continue reading →JIMD Reports – Case and Research Reports, 2011/2
SSIEM 2012
Continue reading →Jak-Stat Signaling: From Basics to Disease
Thomas Decker • Mathias M€uller Editors 2012 The year 2011 marks the 20th anniversary since the discovery of Jak-Stat signal transduction. During this period we have witnessed the pathway expand from exclusively interferons to other cytokines and beyond. What was once a specialized field has rapidly advanced to become general interest and a must-read in every molecular biology textbook.
Continue reading →Inborn Metabolic Diseases
Jean-Marie Saudubray Georges van den Berghe John H. Walter (Editors) 2012 Inborn Metabolic Diseases: Diagnosis and Treatment has for many years been considered a classic textbook, indispensable to those involved in the care of patients with inborn errors of metabolism, including paediatricians, clinical biochemists, neurologists, specialists in internal medicine, geneticists, dietitians, nurses and clinical psychologists.
Continue reading →Clinical Cases in Primary Immunodeficiency Diseases
Asghar Aghamohammadi • Nima Rezaei Editors 2012 A Problem-Solving Approach Primary immunodeficiency diseases (PIDs) are a heterogeneous group of inherited disorders, characterized by different defects in the development and function of the immune system. These defects render a patient susceptible to a variety of infectious diseases.
Continue reading →The Biochemistry of Retinoic Acid Receptors I. Structure, Activation, and Function at the Molecular Level
Mary Ann Asson-Batres · Cécile Rochette-Egly Editors 2014 Subcellular Biochemistry Volume 70 The nutritional importance of liposoluble compounds, such as vitamin A, for good health has been known for a long time, but vitamin A itself, was only discovered 100 years ago. Since that time, vitamin A has been the focus of many scientific investigations aimed at understanding […]
Continue reading →Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Nenad Blau • Marinus Duran K. Michael Gibson • Carlo Dionisi-Vici Editors 2014 The editors feel that the present edition of the Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Metabolic Diseases takes clinical practice in rare metabolic disorders to the next level. Exactly 100 experts in the field authored 55 chapters dealing with a total […]
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