Oh A - Search Results

1

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

Kang E, Kim YM, Seo GH, Oh A, Yoon HM, Ra YS, Kim EK, Kim H, Heo SH, Kim GH, Osborn MJ, Tolar J, Yoo HW, Lee BH. Kang E, et al. Among authors: oh a. J Hum Genet. 2020 Jan;65(2):79-89. doi: 10.1038/s10038-019-0695-0. Epub 2019 Nov 28. J Hum Genet. 2020. PMID: 31776437

2

Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.

Kang E, Kim T, Oh A, Yum MS, Keum C, Yoo HW, Lee BH. Kang E, et al. Among authors: oh a. J Hum Genet. 2019 Nov;64(11):1137-1140. doi: 10.1038/s10038-019-0657-6. Epub 2019 Aug 19. J Hum Genet. 2019. PMID: 31427715

3

Identification of extremely rare mitochondrial disorders by whole exome sequencing.

Seo GH, Oh A, Kim EN, Lee Y, Park J, Kim T, Lim YM, Kim GH, Kim CJ, Yoo HW, Kang E, Lee BH. Seo GH, et al. Among authors: oh a. J Hum Genet. 2019 Nov;64(11):1117-1125. doi: 10.1038/s10038-019-0660-y. Epub 2019 Aug 26. J Hum Genet. 2019. PMID: 31451716

4

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.

Kim YM, Yum MS, Heo SH, Kim T, Jin HK, Bae JS, Seo GH, Oh A, Yoon HM, Lim HT, Kim HW, Ko TS, Lim HS, Osborn MJ, Tolar J, Cozma C, Rolfs A, Zimran A, Lee BH, Yoo HW. Kim YM, et al. Among authors: oh a. J Med Genet. 2020 Feb;57(2):124-131. doi: 10.1136/jmedgenet-2019-106132. Epub 2019 Oct 24. J Med Genet. 2020. PMID: 31649052 Free PMC article.

5

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: oh a. 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

6

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: oh a. 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.

7

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: oh a. Medicine (Baltimore). 2020 Dec 18;99(51):e23864. doi: 10.1097/MD.0000000000023864. Medicine (Baltimore). 2020. PMID: 33371171 Free PMC article.

8

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: oh a. 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

9

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis.

Kim YM, Oh A, Kim KS, Yoo HW, Choi JH. Kim YM, et al. Among authors: oh a. Ann Pediatr Endocrinol Metab. 2019 Dec;24(4):231-236. doi: 10.6065/apem.2019.24.4.231. Epub 2019 Dec 31. Ann Pediatr Endocrinol Metab. 2019. PMID: 31905442 Free PMC article.

10

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. Among authors: oh a. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,155 results

Search Page

Filters