Shoji Yano

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

T. Le, J. Lee, L. Li, 2003, Journal of Inherited Metabolic Disease.

Familial Simpson–Golabi–Behmel syndrome: studies of X‐chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

N. Matsumoto, K. Moseley, Y. Watanabe, 2011, Clinical genetics.