Seo GH - Search Results

1

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Cho JH, Hwang S, Kwak YH, Yum MS, Seo GH, Koh JY, Ju YS, Yoon JH, Kang M, Do HS, Kim S, Kim GH, Bae H, Lee BH. Cho JH, et al. Among authors: seo gh. Mol Genet Genomic Med. 2024 Apr;12(4):e2430. doi: 10.1002/mgg3.2430. Mol Genet Genomic Med. 2024. PMID: 38581121 Free PMC article. Review.

2

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.

Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. Redfield SE, et al. Among authors: seo gh. Hum Genet. 2024 Mar;143(3):311-329. doi: 10.1007/s00439-024-02649-2. Epub 2024 Mar 9. Hum Genet. 2024. PMID: 38459354 Free PMC article.

3

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.

Song Y, Elwafa RAHA, Omar OM, Seo GH, Lee H. Song Y, et al. Among authors: seo gh. Mol Genet Genomic Med. 2024 Mar;12(3):e2410. doi: 10.1002/mgg3.2410. Mol Genet Genomic Med. 2024. PMID: 38433605 Free PMC article.

4

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.

Ryu SW, Yoon JH, Kim DW, Han B, Han H, Han J, Lee H, Seo GH, Lee BH. Ryu SW, et al. Among authors: seo gh. Mol Genet Genomic Med. 2024 Mar;12(3):e2330. doi: 10.1002/mgg3.2330. Epub 2024 Jan 24. Mol Genet Genomic Med. 2024. PMID: 38265426 Free PMC article.

5

Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report.

Ko YJ, Rhie S, Baek J, Seo GH, Lee SY. Ko YJ, et al. Among authors: seo gh. J Pak Med Assoc. 2024 Jan;74(1):149-152. doi: 10.47391/JPMA.8251. J Pak Med Assoc. 2024. PMID: 38219185 Free article.

6

Genetic heterogeneity of cardiomyopathy and its correlation with patient care.

Kim MJ, Cha S, Baek JS, Yu JJ, Seo GH, Kang M, Do HS, Lee SE, Lee BH. Kim MJ, et al. Among authors: seo gh. BMC Med Genomics. 2023 Oct 30;16(1):270. doi: 10.1186/s12920-023-01639-z. BMC Med Genomics. 2023. PMID: 37904158 Free PMC article.

7

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.

Ooi JCE, Azman A, Chan MY, Toh ESY, Seo GH, Kim JH, Yakob Y, Chia YK. Ooi JCE, et al. Among authors: seo gh. Clin Genet. 2024 Feb;105(2):228-230. doi: 10.1111/cge.14448. Epub 2023 Oct 30. Clin Genet. 2024. PMID: 37903629

8

PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.

Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. Redfield SE, et al. Among authors: seo gh. medRxiv [Preprint]. 2023 Dec 19:2023.10.08.23296081. doi: 10.1101/2023.10.08.23296081. medRxiv. 2023. PMID: 37873491 Free PMC article. Updated. Preprint.

9

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.

Ishaq T, Loid P, Ishaq HA, Seo GH, Mäkitie O, Naz S. Ishaq T, et al. Among authors: seo gh. BMC Musculoskelet Disord. 2023 Sep 14;24(1):735. doi: 10.1186/s12891-023-06856-2. BMC Musculoskelet Disord. 2023. PMID: 37710205 Free PMC article.

10

Tenofovir disoproxil fumarate versus tenofovir alafenamide on risk of osteoporotic fracture in patients with chronic hepatitis B: A nationwide claims study in South Korea.

Kim E, Lee HW, Kim SS, Yoon E, Jang ES, Chang JI, Cho YY, Seo GH, Kim HJ. Kim E, et al. Among authors: seo gh. Aliment Pharmacol Ther. 2023 Dec;58(11-12):1185-1193. doi: 10.1111/apt.17716. Epub 2023 Sep 11. Aliment Pharmacol Ther. 2023. PMID: 37694558

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