K. Miyata

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

H. Yoshikawa, K. Ozono, K. Ebina, 2019, Osteoporosis International.

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

K. Ozono, Kenichi Yamamoto, T. Kubota, 2019, Endocrine journal.

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report

K. Ozono, Kenichi Yamamoto, T. Kubota, 2019, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy

Y. Okada, K. Ozono, T. Kaname, 2019, American journal of medical genetics. Part A.

Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D

K. Ozono, T. Kaname, K. Yanagi, 2018, American journal of medical genetics. Part A.