Chiara Leoni

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Valentina Lanari, Paola Daniele et al. · European Journal of Human Genetics · 2014 · 134 citations · Full text

Neurogenomics, Medicine, Distinctive Nf1 Phenotype +9

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Marcello Niceta, Emilia Stellacci, Karen W. Gripp et al. · The American Journal of Human Genetics · 2015 · 113 citations · Full text

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade

Laura Cesarini, Paolo Alfieri, Francesca Pantaleoni et al. · American Journal of Medical Genetics Part A · 2009 · 99 citations

Gypsum precipitation from cold brines in an anoxic basin in the eastern Mediterranean

Maria Bianca Cita, Kim A. Kastens, Floyd W. McCoy et al. · Nature · 1985 · 92 citations

Hydrogeology, Organic Geochemistry, Gypsum Precipitation +10

Brain functional changes in patients with ulcerative colitis

Alessandro Agostini, Nicola Filippini, Daniela Cevolani et al. · Inflammatory Bowel Diseases · 2010 · 87 citations · Full text