Hwang S - Search Results

1

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.

Hye Kim J, Choi Y, Hwang S, Yoon JH, Lee J, Jae Kang M, Kim GH, Yoo HW, Choi JH. Hye Kim J, et al. Among authors: hwang s. Endocr Connect. 2023 Apr 19;12(5):e220413. doi: 10.1530/EC-22-0413. Print 2023 May 1. Endocr Connect. 2023. PMID: 36917044 Free PMC article.

2

Metanephric adenoma of the kidney: case report.

Hwang SS, Choi YJ. Hwang SS, et al. Abdom Imaging. 2004 May-Jun;29(3):309-11. doi: 10.1007/s00261-003-0112-0. Abdom Imaging. 2004. PMID: 15354338

3

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.

Kim JH, Choi Y, Hwang S, Kim GH, Yoo HW, Choi JH. Kim JH, et al. Among authors: hwang s. Endocr Connect. 2022 Feb 11;11(2):e210522. doi: 10.1530/EC-21-0522. Endocr Connect. 2022. PMID: 35015700 Free PMC article.

4

Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta.

Choi Y, Hwang S, Kim GH, Lee BH, Yoo HW, Choi JH. Choi Y, et al. Among authors: hwang s. Ann Pediatr Endocrinol Metab. 2022 Mar;27(1):22-29. doi: 10.6065/apem.2142144.072. Epub 2022 Jan 25. Ann Pediatr Endocrinol Metab. 2022. PMID: 35073670 Free PMC article.

5

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.

Hwang S, Lee BH, Kim WS, Kim DS, Cheon CK, Lee CH, Choi Y, Choi JH, Kim JH, Yoo HW. Hwang S, et al. Medicine (Baltimore). 2022 Sep 16;101(37):e30345. doi: 10.1097/MD.0000000000030345. Medicine (Baltimore). 2022. PMID: 36123934 Free PMC article. Clinical Trial.

6

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.

Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH. Choi Y, et al. Among authors: hwang s. Mol Genet Genomic Med. 2023 Apr;11(4):e2127. doi: 10.1002/mgg3.2127. Epub 2022 Dec 23. Mol Genet Genomic Med. 2023. PMID: 36564961 Free PMC article. Review.

7

Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature review.

Hwang S, Choi Y, Lee BH, Choi JH, Kim JH, Yoo HW. Hwang S, et al. JIMD Rep. 2022 Nov 9;64(1):27-34. doi: 10.1002/jmd2.12344. eCollection 2023 Jan. JIMD Rep. 2022. PMID: 36636588 Free PMC article.

8

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.

Lee NY, Kim JH, Yoon JH, Hwang S, Kim GH, Yoo HW, Choi JH. Lee NY, et al. Among authors: hwang s. Ann Pediatr Endocrinol Metab. 2023 Sep;28(3):184-192. doi: 10.6065/apem.2244152.076. Epub 2023 Feb 1. Ann Pediatr Endocrinol Metab. 2023. PMID: 36731508 Free PMC article.

9

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.

Kim JH, Choi Y, Hwang S, Yoon JH, Kim GH, Yoo HW, Choi JH. Kim JH, et al. Among authors: hwang s. Exp Clin Endocrinol Diabetes. 2023 Oct;131(10):515-522. doi: 10.1055/a-2127-9292. Epub 2023 Jul 12. Exp Clin Endocrinol Diabetes. 2023. PMID: 37437600

10

Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.

Kim JH, Lee Y, Hwang S, Yoon JH, Kim GH, Yoo HW, Choi JH. Kim JH, et al. Among authors: hwang s. Exp Clin Endocrinol Diabetes. 2024 Jan;132(1):39-46. doi: 10.1055/a-2212-7536. Epub 2023 Nov 16. Exp Clin Endocrinol Diabetes. 2024. PMID: 37973156

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