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8 results for Khang,+Rin

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Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation
Author / Creator:Khang, Rin ; Jo, Areum ; Kang, Hojin ; Kim, Hanna ; Kwag, Eunsang ; Lee, Ji-Yeong ; Koo, Okjae ; Park, Jinsu ; Kim, Hark Kyun ; Jo, Dong-Gyu ; Hwang, Inwoo ; Ahn, Jee-Yin ; Lee, Yunjong ; Choi, Jeong-Yun ; Lee, Yun-Song ; Shin, Joo-Ho
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-11, Vol.11 (1), p.22745-22745, Article 22745
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Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing
Author / Creator:Reyna-Fabián, Miriam E. ; Fernández-Hernández, Liliana ; Enríquez-Flores, Sergio ; Apam-Garduño, David ; Prado-Larrea, Carolina ; Seo, Go Hun ; Khang, Rin ; Cortés-González, Vianney
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-06, Vol.14 (1), p.14380-12, Article 14380
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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
Author / Creator:Chang, Yin-Hsi ; Kang, Eugene Yu-Chuan ; Liu, Laura ; Jenny, Laura A ; Khang, Rin ; Seo, Go Hun ; Lee, Hane ; Chen, Kuan-Jen ; Wu, Wei-Chi ; Hsiao, Meng-Chang ; Wang, Nan-Kai
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.131-131, Article 131
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The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Author / Creator:Sadek, Abdelrahim A ; Aladawy, Mohammed A ; Mansour, Tarek M. M ; Sayed, Khulood M ; Khang, Rin ; Abdelkreem, Elsayed
Publisher:Cairo: Springer
Journal title:The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.107
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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
Author / Creator:Lee, Hane ; Moon, Dongseok ; Khang, Rin ; Seo, Go Hun ; Yoon, Chang Ki ; Park, Un Chul ; Park, Kyu Hyung ; Lee, Eun Kyoung
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-01, Vol.13 (1), p.e70060-n/a
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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
Author / Creator:Han, Heonjong ; Seo, Go Hun ; Hyun, Seong-In ; Kwon, Kisang ; Ryu, Seung Woo ; Khang, Rin ; Lee, Eugene ; Kim, JiHye ; Song, Yongjun ; Jeong, Won Chan ; Han, Joohyun ; Kim, Dong-wook ; Yang, Soyeon ; Lee, Sohyun ; Jang, Sohyun ; Lee, Jungsul ; Lee, Hane
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2025-01, Vol.10 (1), p.6-9, Article 6
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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
Author / Creator:Chen, Nelson ; Lee, Hane ; Kim, Angela H ; Liu, Pei-Kang ; Kang, Eugene Yu-Chuan ; Tseng, Yun-Ju ; Seo, Go Hun ; Khang, Rin ; Liu, Laura ; Chen, Kuan-Jen ; Wu, We-Chi ; Hsiao, Meng-Chang ; Wang, Nan-Kai
Publisher:England: BioMed Central Ltd
Journal title:BMC ophthalmology, 2022-11, Vol.22 (1), p.441-441, Article 441
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α-Synuclein A53T Binds to Transcriptional Adapter 2-Alpha and Blocks Histone H3 Acetylation
Author / Creator:Lee, Ji-Yeong ; Kim, Hanna ; Jo, Areum ; Khang, Rin ; Park, Chi-Hu ; Park, Soo-Jeong ; Kwag, Eunsang ; Shin, Joo-Ho
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2021-05, Vol.22 (10), p.5392
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Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation

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Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing

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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling

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The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report

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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy

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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders

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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

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α-Synuclein A53T Binds to Transcriptional Adapter 2-Alpha and Blocks Histone H3 Acetylation

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