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Annals of Human Genetics|October 16, 2010
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activitiesTiziana Bachetti, Eleonora Di Zanni, Francesca Lantieri, et al.
The Journal of Pathology|June 2, 2011
Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptorsMin Li, Silvia Armelloni, Masami Ikehata, et al.
Plos One|June 30, 2015
Upregulation of TMEM16A Protein in Bronchial Epithelial Cells by Bacterial PyocyaninEmanuela Caci, Paolo Scudieri, Emma Di Carlo, et al.
Clinical Chemistry|November 26, 2002
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technologyRosa Santacroce, Antonia Ratti, Francesco Caroli, et al.
Human Molecular Genetics|July 3, 2003
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerveStefano C Previtali, Barbara Zerega, Diane L Sherman, et al.
American Journal of Medical Genetics. Part A|September 30, 2014
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of FallotAnwar Baban, Alex Vincent Postma, Monica Marini, et al.
European Journal of Human Genetics : EJHG|November 13, 2004
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent feverAndrea D'Osualdo, Paolo Picco, Francesco Caroli, et al.
The American Journal of Pathology|March 2, 2011
Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1Aldamaria Puliti, Pia Irene Anna Rossi, Gianluca Caridi, et al.
Plos One|March 26, 2013
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patientsMarta Rusmini, Paola Griseri, Francesca Lantieri, et al.
Scientific Reports|July 18, 2015
Genetic Inhibition Of The Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated To F508del Cystic Fibrosis MutationValeria Tomati, Elvira Sondo, Andrea Armirotti, et al.
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