Shigeo Kure
Sendai, 9808575, Japan
Last Updated: 09/26/2026
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Found 299 publications
Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.
Journal: Case reports in medicine
Published: November 25, 2025
From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive PCCA pseudoexon.
Journal: Molecular therapy. Nucleic acids
Published: October 17, 2025
Galactose mutarotase deficiency as the galactosemia type IV.
Journal: Journal of human genetics
Published: October 03, 2025
Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
Journal: American journal of medical genetics. Part A
Published: September 27, 2025
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.
Journal: Clinical genetics
Published: July 01, 2025
Gaze Patterns of Children with Communication Difficulties Associated with Core Symptoms of Autism Spectrum Disorder.
Journal: The Tohoku journal of experimental medicine
Published: June 11, 2025
The RELN heterozygous single-nucleotide polymorphism rs362691 increases the prefrontal cortical thickness and modulates systemizing-related autistic tendencies in typically developing children and adolescents.
Journal: Frontiers in neuroscience
Published: February 11, 2025
Carnitine Deficiency Caused by Salcaprozic Acid Sodium Contained in Oral Semaglutide in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
Journal: International journal of molecular sciences
Published: January 23, 2025
A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.
Journal: Molecular genetics & genomic medicine
Published: January 21, 2025
Household income modifies the association between social capital and gestational diabetes mellitus in Japan: Results from TMM BirThree Cohort Study.
Journal: Journal of diabetes investigation
Published: December 01, 2024
Next-generation sequencing analysis with a population-specific human reference genome.
Journal: Genes & genetic systems
Published: October 27, 2024
Genetic effects on gestational diabetes mellitus and their interactions with environmental factors among Japanese women.
Journal: Journal of human genetics
Published: October 08, 2024
Last Updated: 09/26/2026