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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 11, 2012
Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletionsLaura Anesi, Paola de Gemmis, Daniela Galla, et al.
Journal of Molecular Neuroscience : MN|September 21, 2010
Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACSLaura Anesi, Paola de Gemmis, Massimo Pandolfo, et al.
Journal of Molecular Neuroscience : MN|April 6, 2013
An Italian cohort study identifies four new pathologic mutations in the ARSA geneDaniela Galla, Paola de Gemmis, Laura Anesi, et al.
Metabolic Brain Disease|April 29, 2017
13 novel putative mutations in ATP7A found in a cohort of 25 Italian familiesPaola de Gemmis, Maria Vittoria Enzo, Elisa Lorenzetto, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|December 12, 2002
Expression of the EMILIN-1 gene during mouse developmentPaola Braghetta, Alessandra Ferrari, Paola de Gemmis, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia|April 14, 2020
[Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus]Dario Musone, Valentina Nicosia, Antonio Treglia, et al.
The Journal of Biological Chemistry|February 12, 2005
Analysis of regulatory regions of Emilin1 gene and their combinatorial contribution to tissue-specific transcriptionCarla Fabbro, Paola de Gemmis, Paola Braghetta, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|March 5, 2004
Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin familyPaola Braghetta, Alessandra Ferrari, Paola De Gemmis, et al.
Stem Cells and Development|November 16, 2006
A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cellsPaola De Gemmis, Cristina Lapucci, Matteo Bertelli, et al.
Human Molecular Genetics|February 18, 2010
Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspectsSilvia Cristini, Stefania Navone, Laura Canzi, et al.
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