6 results  1 of 1 

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
      
2 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
      
3 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
      
4 A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia
Geon Park, Ji Hee Kim, Seung Hwa Rhie, Eun Sun Lee, Se Eung Noh
Lab Med Online.2015;5(1):38-43.   Published online 2015 January 1     DOI: http://dx.doi.org/10.3343/lmo.2015.5.1.38
      
5 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
Korean J Lab Med.2011;31(4):290-293.   Published online 2011 October 3     DOI: http://dx.doi.org/10.3343/kjlm.2011.31.4.290
      
6 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
Ann Dermatol.2011;23(2):132-137.   Published online 2011 May 27     DOI: http://dx.doi.org/10.5021/ad.2011.23.2.132
      

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