Lee Y - Search Results

1

Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.

Choi Y, Oh A, Lee Y, Kim GH, Choi JH, Yoo HW, Lee BH. Choi Y, et al. Among authors: lee bh, lee y. Clin Chim Acta. 2022 Feb 1;526:55-61. doi: 10.1016/j.cca.2021.11.029. Epub 2021 Dec 29. Clin Chim Acta. 2022. PMID: 34973183

2

Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency.

Choi JH, Oh A, Lee Y, Kim GH, Yoo HW. Choi JH, et al. Among authors: lee y. Exp Clin Endocrinol Diabetes. 2021 Jun;129(6):457-463. doi: 10.1055/a-1151-4800. Epub 2020 Jun 2. Exp Clin Endocrinol Diabetes. 2021. PMID: 32485746

3

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

Lee Y, Choi JH, Oh A, Kim GH, Park SH, Moon JE, Ko CW, Cheon CK, Yoo HW. Lee Y, et al. Ann Pediatr Endocrinol Metab. 2020 Jun;25(2):97-103. doi: 10.6065/apem.1938152.076. Epub 2020 Jun 30. Ann Pediatr Endocrinol Metab. 2020. PMID: 32615689 Free PMC article.

4

Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption.

Yu SB, Lee Y, Oh A, Yoo HW, Choi JH. Yu SB, et al. Among authors: lee y. Ann Pediatr Endocrinol Metab. 2020 Jun;25(2):112-117. doi: 10.6065/apem.1938142.071. Epub 2020 Jun 30. Ann Pediatr Endocrinol Metab. 2020. PMID: 32615691 Free PMC article.

5

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Yoon YH, Eun BL, Desnick RJ, Keum C, Lee BH. Seo GH, et al. Among authors: lee bh, lee y, lee h, lee j. Clin Genet. 2020 Dec;98(6):562-570. doi: 10.1111/cge.13848. Epub 2020 Sep 17. Clin Genet. 2020. PMID: 32901917 Free PMC article.

6

Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.

Choi JH, Lee Y, Oh A, Kim GH, Yoo HW. Choi JH, et al. Among authors: lee y. Sex Dev. 2019;13(5-6):240-245. doi: 10.1159/000511258. Epub 2020 Sep 26. Sex Dev. 2019. PMID: 32992319

7

Clinical and molecular spectra of BRAF-associated RASopathy.

Lee Y, Choi Y, Seo GH, Kim GH, Choi IH, Keum C, Ko JM, Cheon CK, Jeon J, Choi JH, Yoo HW, Lee BH. Lee Y, et al. Among authors: lee bh. J Hum Genet. 2021 Apr;66(4):389-399. doi: 10.1038/s10038-020-00852-3. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040082

8

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.

Kim MJ, Yum MS, Seo GH, Lee Y, Jang HN, Ko TS, Lee BH. Kim MJ, et al. Among authors: lee bh, lee y. J Clin Med. 2020 Nov 20;9(11):3724. doi: 10.3390/jcm9113724. J Clin Med. 2020. PMID: 33233562 Free PMC article.

9

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

Ahn H, Seo GH, Oh A, Lee Y, Keum C, Heo SH, Kim T, Choi J, Kim GH, Ko TS, Yum MS, Lee BH, Choi IH. Ahn H, et al. Among authors: lee bh, lee y. Medicine (Baltimore). 2020 Dec 18;99(51):e23864. doi: 10.1097/MD.0000000000023864. Medicine (Baltimore). 2020. PMID: 33371171 Free PMC article.

10

Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease.

Jin HY, Lim JS, Lee Y, Choi Y, Oh SH, Kim KM, Yoo HW, Choi JH. Jin HY, et al. Among authors: lee y. BMC Pediatr. 2021 Jan 14;21(1):35. doi: 10.1186/s12887-021-02496-4. BMC Pediatr. 2021. PMID: 33446154 Free PMC article.

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