Shinji Saitoh

Nagoya, Japan

Last Updated: 09/26/2026

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Found 251 publications

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Journal: Molecular genetics & genomic medicine
Published: March 23, 2026

Gestational age-dependent effects of intrauterine inflammation, delivery mode, and fetal growth on respiratory morbidity in preterm neonates.

Gestational age-dependent effects of intrauterine inflammation, delivery mode, and fetal growth on respiratory morbidity in preterm neonates.

Journal: Frontiers in pediatrics
Published: March 05, 2026

Association of intrapartum epidural analgesia and oxytocin exposure with offspring autism and neurodevelopment from the Japan Environment and Children's Study.

Association of intrapartum epidural analgesia and oxytocin exposure with offspring autism and neurodevelopment from the Japan Environment and Children's Study.

Journal: Scientific reports
Published: January 22, 2026

Neonatal Case of Fetal Pleural Effusion Caused by Cor Triatriatum Dexter with Postnatal Worsening of Superior Vena Cava Syndrome.

Neonatal Case of Fetal Pleural Effusion Caused by Cor Triatriatum Dexter with Postnatal Worsening of Superior Vena Cava Syndrome.

Journal: Pediatric cardiology
Published: January 17, 2026

Investigating Roles of Cerebral Blood Flow to Maintain Thermal Stability of Neonatal Brain Against Cold Stress Using Non-Invasive Probes for Brain Perfusion and Temperature Gradient.

Investigating Roles of Cerebral Blood Flow to Maintain Thermal Stability of Neonatal Brain Against Cold Stress Using Non-Invasive Probes for Brain Perfusion and Temperature Gradient.

Journal: Biosensors
Published: December 30, 2025

Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Journal: Human genome variation
Published: December 17, 2025

Novel nonsense variant of KIF11 in a patient with MCLMR.

Novel nonsense variant of KIF11 in a patient with MCLMR.

Journal: Human genome variation
Published: December 16, 2025

Family Size and Food Allergy in Early Childhood: The Japan Environment and Children's Study.

Family Size and Food Allergy in Early Childhood: The Japan Environment and Children's Study.

Journal: Allergy
Published: December 10, 2025

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025

Association of Rotavirus Infection With Biliary Atresia: A Retrospective Comparative Analysis of Virus-Specific Antibodies.

Association of Rotavirus Infection With Biliary Atresia: A Retrospective Comparative Analysis of Virus-Specific Antibodies.

Journal: Journal of medical virology
Published: October 25, 2025

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Journal: Nature communications
Published: October 17, 2025

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Journal: Brain & development
Published: October 09, 2025
Showing 1-12 of 251

Last Updated: 09/26/2026