Yasuki Ishihara
Suita, Japan
Last Updated: 09/26/2026
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Found 29 publications
Identification of the SCN9A Variant c.647T>C (p. Phe216Ser) in a Patient With Primary Erythromelalgia.
Journal: The Journal of dermatology
Published: February 19, 2026
Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.
Journal: European journal of dermatology : EJD
Published: November 24, 2025
The impact of FBN1 variant types on pregnancy-related aortic dissection in women with Marfan syndrome.
Journal: International journal of cardiology
Published: November 20, 2025
Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians.
Journal: The Journal of clinical investigation
Published: August 05, 2025
Single-nucleus multiome shows motor neuron glutamate overactivation in amyotrophic lateral sclerosis.
Journal: Brain : a journal of neurology
Published: March 01, 2025
Challenges in genetic counseling for RYR1-related myopathies.
Journal: Brain & development
Published: January 20, 2025
A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes.
Journal: Internal medicine (Tokyo, Japan)
Published: January 15, 2025
Effect of Mutation Type on Ectopic Ossification Among Adult Patients With X-Linked Hypophosphatemia.
Effect of Mutation Type on Ectopic Ossification Among Adult Patients With X-Linked Hypophosphatemia.
Journal: Journal of the Endocrine Society
Published: September 17, 2024
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.
Journal: Human molecular genetics
Published: April 15, 2024
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants.
Journal: Journal of human genetics
Published: April 03, 2024
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
Journal: Human genome variation
Published: January 29, 2024
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
Journal: Human genome variation
Published: October 19, 2023
Last Updated: 09/26/2026