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Ji‐Hee Yoon

Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents
2021 · Ji-Hee Yoon, Yunha Choi, et al. · Annals of Pediatric Endocrinology & Metabolism · 11
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Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
2024 · Jun Hee Cho, Soojin Hwang, et al. · Molecular Genetics & Genomic Medicine · 9
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Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents
2024 · Soojin Hwang, Yena Lee, et al. · Annals of Pediatric Endocrinology & Metabolism · 7
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Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents
2023 · Ja Hye Kim, Yunha Choi, et al. · Experimental and Clinical Endocrinology & Diabetes · 7
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome
2025 · Dohyung Kim, Ji-Hee Yoon, et al. · Journal of Human Genetics · 6
A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease
2024 · Soojin Hwang, Hyunwoo Bae, et al. · American Journal of Hematology · 6
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
2024 · Ji-Hee Yoon, Soojin Hwang, et al. · Annals of Pediatric Endocrinology & Metabolism · 5
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Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes
2023 · Nae-yun Lee, Ja Hye Kim, et al. · Annals of Pediatric Endocrinology & Metabolism · 5
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Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism
2023 · Ja Hye Kim, Yunha Choi, et al. · Endocrine Connections · 5
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Endocrine complications after solid organ transplantation in childhood and adolescents
2025 · Ji-Hee Yoon, Dohyung Kim, et al. · Frontiers in Endocrinology · 3
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Clinical and molecular characteristics of Korean patients with Kabuki syndrome
2024 · Ji-Hee Yoon, Soojin Hwang, et al. · Journal of Human Genetics · 3
Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2
2023 · Ja Hye Kim, Yena Lee, et al. · Experimental and Clinical Endocrinology & Diabetes · 3
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study
2025 · Soojin Hwang, Hyunwoo Bae, et al. · Journal of Human Genetics · 2
High-fidelity long-read sequencing reveals a complex RCCX locus at the single-nucleotide level in Korean patients with congenital adrenal hyperplasia
2025 · Seoyeon Kim, Ji-Hee Yoon, et al. · medRxiv · 2
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Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age
2025 · Dohyung Kim, Ji-Hee Yoon, et al. · Annals of Pediatric Endocrinology & Metabolism · 2
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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
2024 · Seung Woo Ryu, Ji‐Hee Yoon, et al. · Molecular Genetics & Genomic Medicine · 2
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Evidence for reciprocal evolution of the global repressor Mlc and its cognate phosphotransferase system sugar transporter
2021 · Ji‐Hee Yoon, Min‐Seung Jeon, et al. · Environmental Microbiology · 2
MON-490 Comprehensive Analysis of RCCX Heterogeneity and CAH-X Syndrome in Congenital Adrenal Hyperplasia Using Long-Read Sequencing
2025 · Ja Hye Kim, Jun-Hong Park, et al. · Journal of the Endocrine Society
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SUN-413 Generic Heterogeneity of the RCCX Module Copy Number Variations Using Long-Read Sequencing in the Human Pangenome Data
2025 · Jun-Hong Park, Ja Hye Kim, et al. · Journal of the Endocrine Society
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Growth hormone therapy in noonan syndrome: impact on neurodevelopment and prognosis
2025 · Ji-Hee Yoon, Aram Yang · Endocrine Abstracts
Frequency and phenotypic spectrum of DICER1 syndrome among children and adolescents with thyroid cancer
2025 · Naeun Kwak, Dohyung Kim, et al. · Endocrine Abstracts
9266 Molecular Analysis Of Congenital Adrenal Hyperplasia-X Syndrome And Development Of A Pilot Panel For Analyzing Structural Variations With Long-Read Sequencing
2024 · Ja Hye Kim, Soyoung Park, et al. · Journal of the Endocrine Society
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P162: Changes of café-au-lait spots intensity by selumetinib in neurofibromatosis type I*
2024 · Beomhee Lee, Dohyung Kim, et al. · Genetics in Medicine Open
THU185 Molecular Etiologic Spectrum Of Patients With 46,XY And 46,XX Disorders Of Sex Development
2023 · Ja Hye Kim, Soyoung Park, et al. · Journal of the Endocrine Society
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Works count: 24
Citation count: 80
H-index: 6
I10-index: 1
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