Pubblicazioni

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Gilbert, Melissa A.; Falsey, Alexandra M.; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M.; Piccoli, David A.; Devoto, Marcella; Spinner, Nancy B.

Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort

2016 - NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

Averna, M; CefalÃ¹, A. B; Stefanutti, Claudia; Di Giacomo, S; Sirtori, C. R; Vigna, G.

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

Nedd4-2 haploinsufficiency causes hyperactivity and increased sensitivity to inflammatory stimuli

2016 - SCIENTIFIC REPORTS

Yanpallewar, S; Wang, T; Koh, Dc; Quarta, E; Fulgenzi, G; Tessarollo, L.

Pubblicazioni

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A

Nedd4-2 haploinsufficiency causes hyperactivity and increased sensitivity to inflammatory stimuli

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A