Asuka Hori
Tokyo, Japan
Last Updated: 09/26/2026
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Found 10 publications
Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report.
Journal: Intestinal research
Published: November 15, 2024
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.
Journal: Molecular genetics & genomic medicine
Published: May 28, 2024
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.
Journal: Congenital anomalies
Published: November 07, 2023
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Journal: American journal of medical genetics. Part A
Published: October 09, 2023
Clinical features of fetal hydrothorax associated with mucopolysaccharidosis-VII.
Journal: The journal of obstetrics and gynaecology research
Published: February 26, 2023
A novel FLNA variant in a fetus with skeletal dysplasia.
Journal: Human genome variation
Published: August 19, 2022
DNA methylation analysis of cord blood samples in neonates born to gestational diabetes mothers diagnosed before 24 gestational weeks.
Journal: BMJ open diabetes research & care
Published: August 13, 2021
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.
Journal: Human genome variation
Published: May 20, 2021
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Journal: Human genome variation
Published: May 20, 2021
Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.
Journal: BMC research notes
Published: May 06, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026