Stefano Tumini

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska et al. · Orphanet Journal of Rare Diseases · 2013 · 56 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay

Valentina Gatta, Ivana Antonucci, Elisena Morizio et al. · Journal of Human Genetics · 2006 · 35 citations

Life Sciences, Genetics, Molecular Genetics +8

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy

Riccardo Bonfanti, Dario Iafusco, Ivana Rabbone et al. · European Journal of Endocrinology · 2021 · 24 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype

Alessia Cappelli, Stefano Tumini, Agostino Consoli et al. · Diabetes Research and Clinical Practice · 2009 · 11 citations

Life Sciences, Genetics, Molecular Genetics +7