Paola de Gemmis

A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells.

M. Pandolfo, A. Fabbri, R. Vettor, 2006, Stem cells and development.

Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.

W. Nyhan, E. Fortunati, L. Fairbanks, 2010, Mutation research.

Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin family.

P. Braghetta, P. Bonaldo, D. Volpin, 2004, Matrix biology : journal of the International Society for Matrix Biology.

Genetic characterization of two North Italian villages: A story of isolation, ancient admixture, and genetic drift

Margherita Francescatto, P. Gasparini, M. Mezzavilla, 2022, American Journal of Biological Anthropology.

Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.

G. Invernici, E. Parati, F. Acerbi, 2010, Human molecular genetics.

Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.

Paola de Gemmis, Daniela Galla, U. Hladnik, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families

M. Enzo, D. Segat, Paola de Gemmis, 2017, Metabolic Brain Disease.

An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

D. Dolcetta, Paola de Gemmis, Daniela Galla, 2013, Journal of Molecular Neuroscience.

Analysis of Regulatory Regions of Emilin1 Gene and Their Combinatorial Contribution to Tissue-specific Transcription*

P. Braghetta, P. Bonaldo, A. Colombatti, 2005, Journal of Biological Chemistry.

Expression of the EMILIN-1 gene during mouse development.

P. Braghetta, P. Bonaldo, D. Volpin, 2002, Matrix biology : journal of the International Society for Matrix Biology.

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families

M. Enzo, D. Segat, Paola de Gemmis, 2017, Metabolic Brain Disease.

Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue.

M. Pandolfo, M. Bertelli, P. Mortini, 2007, Biochimica et biophysica acta.