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Journal of Immunology (Baltimore, Md. : 1950)|April 4, 2007
Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channelsNicoletta Pedemonte, Emanuela Caci, Elvira Sondo, et al.Human Mutation|March 7, 2013
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequencesPaola Monti, Debora Russo, Renata Bocciardi, et al.Disease Models & Mechanisms|April 30, 2016
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressivaSerena Cappato, Laura Tonachini, Francesca Giacopelli, et al.American Journal of Medical Genetics|October 31, 2002
Mutational analysis of the RNX gene in congenital central hypoventilation syndromeIvana Matera, Tiziana Bachetti, Roberta Cinti, et al.Human Mutation|March 22, 2007
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi, Roberto Giorda, Jens Buttgereit, et al.Cell Chemical Biology|May 15, 2018
Pharmacological Inhibition of the Ubiquitin Ligase RNF5 Rescues F508del-CFTR in Cystic Fibrosis Airway EpitheliaElvira Sondo, Federico Falchi, Emanuela Caci, et al.Annals of the Rheumatic Diseases|November 3, 2012
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)Tiziana Bachetti, Sabrina Chiesa, Patrizio Castagnola, et al.Journal of the American Society of Nephrology : JASN|April 15, 2005
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindredsSimone Sanna-Cherchi, Adam Reese, Terry Hensle, et al.Human Mutation|February 27, 2013
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung diseaseIvana Matera, Marco Musso, Paola Griseri, et al.American Journal of Medical Genetics. Part A|November 24, 2011
Familial Poland anomaly revisitedAnwar Baban, Michele Torre, Sara Costanzo, et al.Pageof 14