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Mitochondrial disorders are clinical phenotypes associated with abnormalities of oxidative phosphorylation (OXPHOS), the terminal component of mitochondrial energy metabolism. OXPHOS is carried out in the inner mitochondrial membrane by the four enzymatic complexes of the respiratory chain (compl...
A series of Lectures on Molecular Cytogenetics and DNA Microarrays, given during the 7th Course in MOLECULAR GENETICS AND DNA MICROARRAYS, November, 13-17, 2005, Bertinoro, Italy.
Over the past 30 years, an important aspect of improving the management of patients with various forms of α and β thalassaemia has come from a detailed understanding of the mechanisms by which the two gene clusters are regulated to produce coordinated expression of the α and β-like chains of ...
The lecture will focus on the biological principles and the consequences resulting for computational analysis of regulatory sequences.
The lecture covers the principles of transcription control with a special focus on promoters and their analysis. Concepts of physical versus functional transcri...
Chemische feitelijkheden editie 57, nummer 249, november 2008 - www.chemischefeitelijkheden.nl - Ernstige migraine staat op de WHO-lijst van meest invaliderende ziektes. Het gaat dan ook niet zomaar om een hoofdpijntje – terugkerende migraineaanvallen kunnen iemands leven flink vergallen. Mensen ...
Genetica Medica - Patologie cromosomiche: Anomalie cromosomiche di numero e di struttura. Aneuploidie dei cromosomi sessuali. Metodiche di Citogenetica Molecolare per l’identificazione di sindromi genetiche.
Trinucleotide repeat diseases are caused by expansion of a normally polymorphic number of trinucleotide repeats in a gene. This goal of this lecture is to compare and contrast the genetics and pathogenesis of five, representative trinucleotide repeat diseases: spinal-bulbar muscular atrophy & Hu...
Presentation in Dutch: It is a presentation given for the people of the town Rucphen to explain to them the research that the Erasmus MC does with their phenotype and genotype information gathered from DNA and blood samples.
Presentation in Dutch explaining the research done with the ERF population.
Presentation in Dutch: It is a presentation given for the people of the town Rucphen to explain to them the research that the Erasmus MC does with their phenotype and genotype information gathered from DNA and blood samples.