E. Rivas

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

N. Laing, E. Oates, T. Beilharz, 2022, medRxiv.

Recurrent eosinophilic cystitis in a child with chronic granulomatous disease.

M. Podestá, Cecilia N. Barese, M. Villa, 2004, Journal of pediatric hematology/oncology.

X-Linked Chronic Granulomatous Disease: First Report of Mutations in Patients of Argentina

R. Zandomeni, S. Copelli, M. Oleastro, 2004, Journal of pediatric hematology/oncology.

Molecular characterization of a novel splice site mutation within the CYBB gene leading to X‐linked chronic granulomatous disease

R. Zandomeni, S. Copelli, P. Heyworth, 2005, Pediatric blood & cancer.

Wiskott‐Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations

S. Rosenzweig, M. Oleastro, M. Zelazko, 2002, Human mutation.

Bruton tyrosine kinase gene mutations in Argentina

S. Rosenzweig, M. Oleastro, M. Zelazko, 2003, Human mutation.