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Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. Classification level: Disorder. ICD Q ICD 4A OMIM: UMLS: C MeSH: C Disease name. OMIM disease. Gene name or symbol. Other search option s Alphabetical list. Nijmegen breakage syndrome-like disorder Suggest an update. Your message has been sent Your message has not been sent. Please contact an administrator. Comment Form X. Detailed information. Additional information. Further information on this disease Classification s 5 Gene s 2. Research activities on this disease Research projects 73 Biobanks 13 Registries 40 Network of experts 9 Newborn screening Newborn screening library. The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
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At the department of Pharmacology and Toxicology we offer state of the art approaches, techniques and expertise to study pharmacological mechanisms driving the clinical pharmacology and toxicology of drugs. One such approach is the ex vivo placenta perfusion technique, which we use to study the handling of drugs by the human placenta. For more information see the demonstration video. Please contact dr. Rick Greupink for more information and collaborations. Given the fact that we practice pharmacology and toxicology research across the entire range of the scientific field, from molecule to man to population, a wide variety of internships is possible. We welcome students on both the Bachelor and Master level. As internship student you will participate in the research groups of the department, actively contributing to clinical and basic scientific research meetings and providing you with the opportunity to learn new techniques and approaches relevant to the field of pharmacology and toxicology. Our internships are characterized by a high level of responsibility for students under close guidance and supervision of medical doctors, PhD-student and members of the department staff. Next to internship students we are also looking for enthusiastic students who are willing to contribute to writing literature theses relevant to ongoing projects in the department. For topics of ongoing research projects, please see the information provided for the different research groups and staff members on our website. For more information and applications for internships or literature theses please contact Jan Koenderink. If you are interested in an internship at the department of Pharmacology — Toxicology, please complete this form and we will get back to you shortly. In order to assist you efficiently, please fill out the form completely and as specifically as possible. Research Departments Pharmacology and Toxicology. Our researchers Pharmacology and Toxicology A list of researchers connected to this department. Ussing Chamber experiment With this movie we show the Ussing Chamber experiment which is a unique ex vivo way of investigating the passage of compounds through the intestine. By using fresh human intestine tissue and several vitality parameters we can come as close as possible to the real situation in our body. State-of-the-art technique ex vivo placenta perfusion At the department of Pharmacology and Toxicology we offer state of the art approaches, techniques and expertise to study pharmacological mechanisms driving the clinical pharmacology and toxicology of drugs. Internships Discover our internship opportunities at Pharmacology — Toxicology. Kirsten Lassing won an award in the Master student category. Joyce van der Heijden won the award for Best Scientific Poster. Facilities and services Pharmacology and Toxicology This department wants to improve the efficacy and safety of drugs including drug overdoses and intoxications. We investigate the complete spectrum from the molecular to the clinical level. Facilities and services Pharmacology and Toxicology Bioanalytical equipment for analysis of small molecule pharmaceuticals and toxicants in any biological matrix. Cell models Overexpression of transport proteins in cells or vesicles. Transport assays in cell models or with specific transport proteins. Ample experience with culturing of various human placental trophoblast cell lines to study drug disposition and effects. Ample experience with culturing and differentiating skeletal muscle myotubes. Ample experience with culturing a patented in-house developed human conditionally immortalized proximal tubule cell line ciPTEC Experience with culturing and differentiation of iPSC-derived cardiomyocytes. Imaging High-content and high-throughput microscopic imaging assays to asses multiple mitochondrial function parameters and cellular viability Ex vivo models small vessel myograph ex vivo, dual-side human placenta perfusion to study placental drug transfer. See our demonstration video here. Human in vitro models Conditionally immortalized proximal tubular epithelial cells ciPTEC Kidney-on-chip Vessel-on-chip model with HUVECs in collaboration with Twente University HUVEC culture in collaboration with Dept of Obstetrics ; quantification of transporter expression and transporter function Human in-vivo models Perfused forearm model with intrabrachial drug infusions and forearm blood flow measurements. Metabolic flux modelling using human metabolic network reconstructions. Molecular docking and virtual compound screening. Education At the Radboudumc we teach 6 Master courses that together form a firm basis for becoming a registered toxicologist. Getting there. Go to Geert Grooteplein Enter building at: Study Center Medical Sciences. Go to Floor 0 and follow route Department of Pharmacology and Toxicology. Vorige pagina. Het menu Sluiten Open het Menu.
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