Hiroshi Suzumura - Publications

A novel truncating FBN1 variant in a family with Marfan syndrome.

Journal: Human genome variation

Published: March 11, 2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Journal: iScience

Published: March 02, 2026

Neonatal Listeria Meningitis Showing the Limits of the FilmArray Meningitis/Encephalitis Panel® and the Potential Use of Serum.

Journal: Indian journal of pediatrics

Published: December 29, 2025

RET (C620R) Mutation in a Hirschsprung Disease Family: A Case Report Unveiling Asymptomatic Pheochromocytoma and Unmanifested Medullary Thyroid Carcinoma.

Journal: Cureus

Published: June 11, 2025

Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: November 28, 2023

Skin color change due to peripherally inserted central catheter leakage.

Journal: Pediatrics and neonatology

Published: February 08, 2022

Eosinophilic Bloody Stool in a Neonate.

Journal: The Journal of pediatrics

Published: April 29, 2021

Type 3 antenatal Bartter syndrome presenting with mild polyuria.

Journal: BMJ case reports

Published: April 08, 2021

Congenital cutaneous candidiasis in one infant among a twin sibling pair.

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: March 22, 2021

Low-birth-weight infant with Antley-Bixler syndrome-like phenotype caused by POR mutation: a rare case report.

Journal: European review for medical and pharmacological sciences

Published: December 18, 2020

Retropharyngeal emphysema in a newborn with inspiratory stridor.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: August 14, 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Journal: American journal of medical genetics. Part A

Published: March 26, 2020