Tomomi Yamaguchi
Matsumoto, Japan
Last Updated: 09/26/2026
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Found 54 publications
Concurrent central nervous system infection with Candida and Mycobacterium intracellulare in CARD9 deficiency: immunological insights from a single case.
Journal: Clinical and experimental immunology
Published: February 19, 2026
Concurrent central nervous system infection with Candida and Mycobacterium intracellulare in CARD9 deficiency: immunological insights from a single case.
Journal: Clinical and experimental immunology
Published: February 19, 2026
Gastrointestinal involvement in Ehlers-Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant.
Journal: Journal of human genetics
Published: January 21, 2026
Fatal Aortic Rupture at Term Pregnancy Caused by Vascular Ehlers-Danlos Syndrome Diagnosed by Postmortem Genetic Testing Using Formalin-Fixed, Paraffin-Embedded Tissue.
Journal: The journal of obstetrics and gynaecology research
Published: November 21, 2025
Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers-Danlos Syndrome: The First Non-European Cohort.
Journal: American journal of medical genetics. Part A
Published: November 09, 2025
Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
Journal: Pathology international
Published: October 27, 2025
Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.
Journal: DEN open
Published: October 07, 2025
Molecular Characterization and Its Clinical Application of GNAS Variants in Intramuscular Myxoma.
Journal: Cancer medicine
Published: June 25, 2025
JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease.
Journal: Journal of cardiology
Published: February 17, 2025
Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Journal: Gynecologic oncology reports
Published: November 25, 2024
JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease.
Journal: Circulation journal : official journal of the Japanese Circulation Society
Published: September 29, 2024
Suspected malnutrition-induced reversible feline skin fragility syndrome in a cat with congenital axial deformities.
Journal: The Canadian veterinary journal = La revue veterinaire canadienne
Published: March 04, 2024
Last Updated: 09/26/2026