Shoji Yano

Publication Activity (10 Years)

Years Active: 2016-2020
Publications (10 Years): 5

Top Topics

Contrast Enhanced

Replacement Therapy

Top Venues

Journal of inherited metabolic disease

Journal of pediatric genetics

Clinical genetics

Pediatric nephrology (Berlin, Germany)

This page only lists publications with an associated author ORCID identifier.

Publications

Mikako Warren, Moe Takeda, Arthur Partikian, Lawrence Opas, Richard Fine, Shoji Yano
Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis. Pediatric nephrology (Berlin, Germany) 35 (6) (2020)
Shoji Yano, Kathryn Moseley, Neha Mahajan, Mikako Warren, Linda Vachon
Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas. Journal of pediatric genetics 11 (1) (2020)
Neha Mahajan, Mikako Warren, Shoji Yano
Reduction of large soft-tissue Gaucheromas with substrate reduction therapy. Journal of inherited metabolic disease 43 (2) (2019)
Shoji Yano, Atsuko Fujimoto, Jeanne Morin-Leisk, Naomichi Matumoto, Noriko Miyake, Meghan Gillespie, Harry Gao
New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. Clinical genetics 94 (5) (2018)
Neha Mahajan, Russell Brynes, Shoji Yano
Large soft-tissue masses in an adult patient with Gaucher disease. Journal of inherited metabolic disease 39 (6) (2016)