Search Results - "Giacopuzzi, E."

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations by Ritelli, M., Morlino, S., Giacopuzzi, E., Bernardini, L., Torres, B., Santoro, G., Ravasio, V., Chiarelli, N., D'Angelantonio, D., Novelli, A., Grammatico, P., Colombi, M., Castori, M.

“…Deletions encompassing TAK1‐binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in…”
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OC-09Independent determinants of CAP in healthy individuals with dysmetabolism by Bianco, C., Pelusi, S., Giacopuzzi, E., Santoro, L., Malvestiti, F., Tomasi, M., Marini, I., Carpani, R., Prati, D., Valenti, L.V.C.

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Independent determinants of CAP values in healthy individuals with dysmetabolism by Bianco, C., Pelusi, S., Grigoli, E. Giacopuzzi, Santoro, L., Malvestiti, F., Tomasi, M., Marini, I., Margarita, S., Carpani, R., Prati, D., Valenti, L.

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Characterization and expression analysis of mcoin 1.1 and mcoln 1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV by Benini, A, Bozzato, A, Mantovanelli, S, Calvarini, L, Giacopuzzi, E, Bresciani, R, Molerp, S, Zizioli, D, Beltrame, M, Borsani, G

“…Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene coding for mucolipin-1 (TRPMLI).TRPMLI…”
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