Ji-hee Yoon
Gyeonggi-do, Republic of Korea
Last Updated: 09/26/2026
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Found 17 publications
Long-term safety and efficacy of triheptanoin in Korean patients with long-chain fatty acid oxidation disorders: a prospective, open-label, single-center, phase II clinical study.
Journal: BMC medical genomics
Published: January 05, 2026
Endocrine complications after solid organ transplantation in childhood and adolescents.
Journal: Frontiers in endocrinology
Published: July 03, 2025
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Journal: Journal of human genetics
Published: June 14, 2025
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Journal: Journal of human genetics
Published: September 05, 2024
Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age.
Journal: Annals of pediatric endocrinology & metabolism
Published: June 18, 2024
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Journal: Journal of human genetics
Published: February 23, 2024
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Journal: Molecular genetics & genomic medicine
Published: January 24, 2024
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
Journal: American journal of hematology
Published: December 19, 2023
Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.
Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Published: November 16, 2023
Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.
Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Published: July 12, 2023
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.
Journal: Molecular genetics & genomic medicine
Published: July 09, 2023
Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.
Journal: Endocrine connections
Published: March 01, 2023
Last Updated: 09/26/2026