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    The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina by Kohan, R., Pesaola, F., Guelbert, N., Pons, P., Oller de Ramirez, A.M., Rautenberg, G., Becerra, A., Sims, K., Xin, W., Cismondi, I.A.

    Published 2017
    “…Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/knownmutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; and 4) NCL-like pathology studies in progress. …”
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    Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder. by Kohan, R., Cismondi, I.A., Adams, H., Bond, M., Brown, R., Cooper, J.D., Krupnik de Hidalgo, P., Kleine Holthaus, S.M., Mole, S.E., Mugnaini, J., Oller de Ramirez, A.M., Pesaola, F., Platt, F.M., Noher de Halac, I., Rautenberg, G.

    Published 2017
    “…To evaluate the state of education in the RD field, a summary should be periodically up dated in order to assess the progress achieved in each country that signed up to the international conventions addressing RD issues in society. …”
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