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- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
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Ji-Hee Yoon
, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi - Ann Pediatr Endocrinol Metab. 2024;29(1):54-59. Published online February 29, 2024
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- Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes
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Nae-yun Lee, Ja Hye Kim, Ji-Hee Yoon, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
- Ann Pediatr Endocrinol Metab. 2023;28(3):184-192. Published online February 1, 2023
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- Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
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Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
- Ann Pediatr Endocrinol Metab. 2023;28(2):77-86. Published online June 30, 2023
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- Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta
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Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi
- Ann Pediatr Endocrinol Metab. 2022;27(1):22-29. Published online January 25, 2022
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Supplementary Material
- Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency
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Yena Lee, Jin-Ho Choi, Arum Oh, Gu-Hwan Kim, Sook-Hyun Park, Jung Eun Moon, Cheol Woo Ko, Chong-Kun Cheon, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2020;25(2):97-103. Published online June 30, 2020
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- Long-term clinical outcome and the identification of homozygous
CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A - Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2016;21(3):169-173. Published online September 30, 2016
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- Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome
- Insook Jeong, Eungu Kang, Ja Hyang Cho, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2016;21(1):26-30. Published online March 31, 2016
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- Endocrine dysfunctions in children with Williams-Beuren syndrome
- Yoon-Myung Kim, Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2016;21(1):15-20. Published online March 31, 2016
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- Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2016;21(1):1-6. Published online March 31, 2016
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- Turner syndrome presented with tall stature due to overdosage of the
SHOX gene - Go Hun Seo, Eungu Kang, Ja Hyang Cho, Beom Hee Lee, Jin-Ho Choi, Gu-Hwan Kim, Eul-Ju Seo, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2015;20(2):110-113. Published online June 30, 2015
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- Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience
- Sun-Jeong Shin, Yeonah Sul, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Jae Hyun Kim, Jin-Ho Choi, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2015;20(1):27-33. Published online March 31, 2015
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- A novel
de novo mutation withinPHEX gene in a young girl with hypophosphatemic rickets and review of literature - Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2014;19(1):36-41. Published online March 31, 2014
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- p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
- Hye Won Park, Byung Ok Kwak, Gu-Hwan Kim, Han-Wook Yoo, Sochung Chung
- Ann Pediatr Endocrinol Metab. 2013;18(1):40-43. Published online March 31, 2013
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