Toshiki Tsunogai
Tokyo, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.
Journal: Biochemical and biophysical research communications
Published: July 16, 2026
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study.
Journal: Frontiers in endocrinology
Published: February 20, 2026
Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.
Journal: American journal of medical genetics. Part A
Published: February 17, 2026
Developing splice-switching oligonucleotides for urea cycle disorder using an integrated diagnostic and therapeutic platform.
Journal: Journal of hepatology
Published: July 08, 2024
A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: May 06, 2024
Erratum: Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis.
Journal: Molecular therapy. Methods & clinical development
Published: October 03, 2022
Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis.
Journal: Molecular therapy. Methods & clinical development
Published: November 30, 2021
Aggressive B-Cell Lymphoma Involving the Appendix and Bilateral Ovaries in an 11-Year-Old Girl.
Journal: Journal of pediatric and adolescent gynecology
Published: December 16, 2019
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: October 06, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026