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| 1 |
A Novel Missense PRKAR1A Variant Causes Carney Complex
Boram Kim, Han Na Jang, Kyung Shil Chae, Ho Seop Shin, Yong Hwy Kim, Su Jin Kim, Moon-Woo Seong, Jung Hee Kim
Endocrinol Metab.2022;37(5):810-815. Published online 2022 October 4
DOI: http://dx.doi.org/10.3803/EnM.2022.1544
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| 2 |
Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss
Alphonse Umugire, Sungsu Lee, Chang-Joon Lee, Youngmi Choi, Taekyoung Kim, Hyong-Ho Cho
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| 3 |
Mutation analysis and characterisation of F9 gene in haemophilia-B population of India
Sujayendra Kulkarni, Rajat Hegde, Smita Hegde, Suyamindra S. Kulkarni, Suresh Hanagvadi, Kusal K. Das, Sanjeev Kolagi, Pramod B. Gai, Rudragouda Bulagouda
Blood Res.2021;56(4):252-258. Published online 2021 December 31
DOI: http://dx.doi.org/10.5045/br.2021.2021016
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| 4 |
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
Ji Young Choi, Song-Ee Kim, Sang Eun Lee, Soo-Chan Kim
Yonsei Med J.2018;59(2):341-344. Published online 2018 February 5
DOI: http://dx.doi.org/10.3349/ymj.2018.59.2.341
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| 5 |
A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia
Geon Park, Ji Hee Kim, Seung Hwa Rhie, Eun Sun Lee, Se Eung Noh
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| 6 |
A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
You Kyung Lee, Dong-Jin Chang, Sung Kun Chung
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| 7 |
A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency
Jong Ho Lee, Hee Soon Cho, Myung Soo Hyun, Hwa-Young Kim, Hee-Jin Kim
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| 8 |
Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Deborah Lee, Sang-Hyun Kim, Ji-Sung Chun, Myeong-Hoon Joo, Ji-Yeon Kim, Seon-Wook Hwang, Hyo-Joon Kang, Sung-Wook Park, Ho-Suk Sung
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| 9 |
Molecular Analysis of Isoleucyl-tRNA Synthetase Mutations in Clinical Isolates of Methicillin-Resistant Staphylococcus aureus with Low-Level Mupirocin Resistance
Jin Ah Yang, Dae Won Park, Jang Wook Sohn, In Seok Yang, Kyung Hyun Kim, Min Ja Kim
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| 10 |
A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
Hyoung Jun Koh, Nam Soo Jwa, Sung Soo Kim, Sung Chul Lee, Oh Woong Kwon
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| 11 |
Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency
Chang-Seok Ki, Jong-Won Kim, Hee-Jin Kim, Sung-Min Choi, Gyoung-Yim Ha, Hee Jung Kang, Won-Duck Kim
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