Hiroaki Hanafusa

Chuo, 6500017, Japan

Last Updated: 09/26/2026

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Found 24 publications

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Journal: Pediatric nephrology (Berlin, Germany)

Published: May 30, 2026

Sebaceous Nevus Harboring an HRAS p.Ala11_Gly12dup Variant.

Sebaceous Nevus Harboring an HRAS p.Ala11_Gly12dup Variant.

Journal: The Journal of dermatology

Published: April 27, 2026

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Journal: Kidney international reports

Published: February 17, 2026

A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome.

A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome.

Journal: Brain & development

Published: January 15, 2026

Clinical characteristics of patients with SALL1-related disorder.

Clinical characteristics of patients with SALL1-related disorder.

Journal: Pediatric nephrology (Berlin, Germany)

Published: April 25, 2025

Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.

Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.

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

Published: February 26, 2025

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan.

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan.

Journal: The Kobe journal of medical sciences

Published: February 24, 2025

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III.

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III.

Journal: Diagnostics (Basel, Switzerland)

Published: February 12, 2025

The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing.

The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing.

Journal: Brain & development

Published: November 02, 2024

Identification of Genetic Variants in Status Epilepticus Associated With Fever.

Identification of Genetic Variants in Status Epilepticus Associated With Fever.

Journal: Brain and behavior

Published: June 04, 2024

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.

Journal: Human genome variation

Published: December 26, 2023

Effect of stomach inflation during cardiopulmonary resuscitation on return of spontaneous circulation in out-of-hospital cardiac arrest patients: A retrospective observational study.

Effect of stomach inflation during cardiopulmonary resuscitation on return of spontaneous circulation in out-of-hospital cardiac arrest patients: A retrospective observational study.

Journal: Resuscitation

Published: August 12, 2023

Showing 1-12 of 24

Last Updated: 09/26/2026