Browsing "Pediatrics & Adolescent Medicine" by Keyword : Mutation, Missense
Showing results 1 to 6 of 6
| Pub Year | | Title | Author(s) |
| 2000 | | A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case. | 한시훈 |
| 2000 | | Connexin26 mutations associated with nonsyndromic hearing loss. | 박기현, 박홍준, 전영명, 한시훈 |
| 2020 | | Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing | 금창대, 노정기, 이해상, 정선용, 정재연, 황진순 |
| 2016 | | Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls | 권은별, 이해상, 정선용, 황진순 |
| 2010 | | Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. | 김성환, 황진순 |
| 2012 | | Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation | 황진순 |
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