Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

by Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann
Published 2020-08-01

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

by Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee
Published 2020-11-01