樋口 洋介

Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D-dependent rickets type 2A: A case report. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 34(2) 131-136 2025年4月  

Radiological characteristics of skeletal growth in neonates and infants with achondroplasia. 

American journal of medical genetics. Part A 2023年12月29日  

Association between infant breastfeeding practices and timing of peak height velocity: A nationwide longitudinal survey in Japan 

Pediatric Research 2023年7月3日  

Respiratory pathogen trends in patients with Kawasaki disease during the COVID-19 pandemic and respiratory syncytial virus epidemic in Japan. 

Pediatrics and neonatology 2023年2月18日  

A 4-month-old female infant with breast development and virilisation. 

Journal of paediatrics and child health 2022年4月28日  

A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome. 

American journal of medical genetics. Part A 2021年8月28日  

Infantile Pyknocytosis with marked hemolytic anemia 

Pediatrics & Neonatology 2021年6月11日  

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands. 

Molecular genetics & genomic medicine 2021年5月3日  

A 9-year-old boy with severe motor and intellectual disabilities and prolonged abdominal distension. 

Journal of paediatrics and child health 2021年3月26日  

The clinical course of Rathke’s cleft cysts in pediatric patients: impact on growth and pubertal development 

Clinical Pediatric Endocrinology 2021年  

Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test. 

Journal of pediatric endocrinology & metabolism : JPEM 2020年11月1日  

A 9-year-old girl with Kawasaki disease and pulmonary nodules 

Clinical Rheumatology 2020年6月12日  

Novel avpr2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control 

Clinical Pediatric Endocrinology 28(4) 2019年  

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures 

Clinical Pediatric Endocrinology 27(3) 2018年  

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: A comparison of clinical and radiological features 

Journal of Pediatric Endocrinology and Metabolism 30(1) 2017年