Rie Seyama

Tokyo, Japan

Last Updated: 09/26/2026

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Found 24 publications

Practical technique and clinical management guide for external cephalic version.

Practical technique and clinical management guide for external cephalic version.

Journal: Obstetrics & gynecology science

Published: December 09, 2025

Practical technique and clinical management guide for external cephalic version.

Practical technique and clinical management guide for external cephalic version.

Journal: Obstetrics & gynecology science

Published: September 11, 2025

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Journal: Journal of human genetics

Published: September 06, 2025

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Journal: NPJ genomic medicine

Published: August 14, 2025

Association Between Fetal Pulmonary Artery Acceleration Time/Ejection Time Ratio and Postnatal Inhaled Nitric Oxide Requirement in Surviving Infants With Left-Sided Congenital Diaphragmatic Hernia.

Association Between Fetal Pulmonary Artery Acceleration Time/Ejection Time Ratio and Postnatal Inhaled Nitric Oxide Requirement in Surviving Infants With Left-Sided Congenital Diaphragmatic Hernia.

Journal: Prenatal diagnosis

Published: June 23, 2025

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Journal: NPJ genomic medicine

Published: March 11, 2025

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Journal: BMC ophthalmology

Published: January 23, 2025

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Journal: Journal of human genetics

Published: June 20, 2024

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.

Journal: Internal medicine (Tokyo, Japan)

Published: August 09, 2023

An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.

An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.

Journal: BMC pediatrics

Published: July 06, 2023

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Journal: The Journal of clinical investigation

Published: April 06, 2023

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.

Journal: Life science alliance

Published: March 06, 2023

Showing 1-12 of 24

Last Updated: 09/26/2026