Han J - Search Results

1

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

Kuht HJ, Han J, Maconachie GDE, Park SE, Lee ST, McLean R, Sheth V, Hisaund M, Dawar B, Sylvius N, Mahmood U, Proudlock FA, Gottlob I, Lim HT, Thomas MG. Kuht HJ, et al. Among authors: han j. Hum Mol Genet. 2020 Nov 4;29(18):2989-3002. doi: 10.1093/hmg/ddaa166. Hum Mol Genet. 2020. PMID: 32744312 Free PMC article.

2

Retinal microstructures are altered in patients with idiopathic infantile nystagmus.

Han J, Lee T, Lee JB, Han SH. Han J, et al. Among authors: han sh. Graefes Arch Clin Exp Ophthalmol. 2017 Aug;255(8):1661-1668. doi: 10.1007/s00417-017-3713-y. Epub 2017 Jun 14. Graefes Arch Clin Exp Ophthalmol. 2017. PMID: 28616716

3

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.

Han J, Rim JH, Hwang IS, Kim J, Shin S, Lee ST, Choi JR. Han J, et al. Mol Vis. 2017 Sep 20;23:649-659. eCollection 2017. Mol Vis. 2017. PMID: 28966547 Free PMC article.

4

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

Rim JH, Lee ST, Gee HY, Lee BJ, Choi JR, Park HW, Han SH, Han J. Rim JH, et al. Among authors: han sh, han j. JAMA Ophthalmol. 2017 Dec 1;135(12):1376-1385. doi: 10.1001/jamaophthalmol.2017.4859. JAMA Ophthalmol. 2017. PMID: 29145603 Free PMC article.

5

Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

Park SE, Lee JS, Lee ST, Kim HY, Han SH, Han J. Park SE, et al. Among authors: han sh, han j. Ophthalmic Genet. 2019 Aug;40(4):359-361. doi: 10.1080/13816810.2019.1650074. Epub 2019 Aug 8. Ophthalmic Genet. 2019. PMID: 31393201

6

Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

Lee ST, Han J. Lee ST, et al. Among authors: han j. JAMA Ophthalmol. 2019 Dec 1;137(12):1465-1466. doi: 10.1001/jamaophthalmol.2019.3755. JAMA Ophthalmol. 2019. PMID: 31556918 No abstract available.

7

Clinical and Optic Disc Characteristics of Patients Showing Visual Recovery in Leber Hereditary Optic Neuropathy.

Moon Y, Kim US, Han J, Ahn H, Lim HT. Moon Y, et al. Among authors: han j. J Neuroophthalmol. 2020 Mar;40(1):15-21. doi: 10.1097/WNO.0000000000000830. J Neuroophthalmol. 2020. PMID: 31609832

8

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.

Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J. Surl D, et al. Among authors: han sh, han j. Mol Vis. 2020 Feb 24;26:26-35. eCollection 2020. Mol Vis. 2020. PMID: 32165824 Free PMC article.

9

Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations.

Lee J, Suh Y, Jeong H, Kim GH, Byeon SH, Han J, Lim HT. Lee J, et al. Among authors: han j. J Hum Genet. 2021 Mar;66(3):333-338. doi: 10.1038/s10038-020-00829-2. Epub 2020 Sep 12. J Hum Genet. 2021. PMID: 32920601

10

Clinical utility gene card for FRMD7-related infantile nystagmus.

Dawar B, Kuht HJ, Han J, Maconachie GDE, Thomas MG. Dawar B, et al. Among authors: han j. Eur J Hum Genet. 2021 Oct;29(10):1584-1588. doi: 10.1038/s41431-021-00826-9. Epub 2021 Feb 25. Eur J Hum Genet. 2021. PMID: 33633368 Free PMC article. No abstract available.

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