All Stories

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

    Article • American Journal of Medical Genetics Part A, December 2023, Wiley

    YOUSUKE HIGUCHI, Dr Kosei Hasegawa

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

    Article • Pediatric Research, July 2023, Springer Science + Business Media

    YOUSUKE HIGUCHI

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

    Article • Pediatrics & Neonatology, February 2023, Elsevier

    YOUSUKE HIGUCHI

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

    Article • Journal of Paediatrics and Child Health, April 2022, Wiley

    YOUSUKE HIGUCHI

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

    Article • Journal of Paediatrics and Child Health, February 2022, Wiley

    YOUSUKE HIGUCHI

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

    Article • Clinical Pediatric Endocrinology, January 2022, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  7. Infantile pyknocytosis with marked hemolytic anemia

    Article • Pediatrics & Neonatology, September 2021, Elsevier

    YOUSUKE HIGUCHI

  8. A novel pathogenic variant p. Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome an...

    Article • American Journal of Medical Genetics Part A, August 2021, Wiley

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

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

    Article • Molecular Genetics & Genomic Medicine, May 2021, Wiley

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  10. 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

    Article • Journal of Pediatric Endocrinology and Metabolism, October 2020, De Gruyter

    YOUSUKE HIGUCHI, Yuki Ebuchi

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

    Article • Clinical Rheumatology, June 2020, Springer Science + Business Media

    YOUSUKE HIGUCHI

  12. Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control

    Article • Clinical Pediatric Endocrinology, January 2019, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  13. Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures

    Article • Clinical Pediatric Endocrinology, January 2018, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  14. Sorafenib treatment for papillary thyroid carcinoma with diffuse lung metastases in a child with autism spectrum disorder: a case report

    Article • BMC Cancer, November 2017, Springer Science + Business Media

    YOUSUKE HIGUCHI

  15. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

    Article • Journal of Medical Case Reports, August 2017, Springer Science + Business Media

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  16. Clinical Epidemiology and Treatment of Febrile and Afebrile Convulsions With Mild Gastroenteritis: A Multicenter Study

    Article • Pediatric Neurology, February 2017, Elsevier

    YOUSUKE HIGUCHI

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

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2017, De Gruyter

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  18. Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria

    Article • January 2017, Springer Science + Business Media

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  19. HDR syndrome in a Japanese girl with biliary atresia: a case report

    Article • BMC Pediatrics, January 2016, Springer Science + Business Media

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  20. A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia

    Article • American Journal of Medical Genetics Part A, January 2016, Wiley

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  21. Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2016, De Gruyter

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  22. The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report

    Article • Pediatric Rheumatology, October 2013, Springer Science + Business Media

    YOUSUKE HIGUCHI