Institute of History of Mediterranean Europe

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

Mendelian Disorder, Disease Mechanism, Wilson Disease Gene +11

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Giuseppe Pilia, Rhiannon M. Hughes‐Benzie, Alex MacKenzie et al. · Nature Genetics · 1996 · 762 citations

Developmental Biology, Simpson-golabi-behmel Overgrowth Syndrome, Somatic Variant +10

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Konstantin Petrukhin, S G Fischer, Mario Pirastu et al. · Nature Genetics · 1993 · 507 citations

Molecular Diagnostic Techniques, Mendelian Disorder, Disease Mechanism +9

Ultra-high energy storage performance with mitigated polarization saturation in lead-free relaxors

Letao Yang, Xi Kong, Zhenxiang Cheng et al. · Journal of Materials Chemistry A · 2019 · 260 citations

Materials Science, Materials Engineering, Electrical Engineering +14

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

Maria Cristina Rosatelli, Alessandra Meloni, Antonella Meloni et al. · Human Genetics · 1998 · 245 citations

Autoimmune Disease, Common Mutation, Pathology +5