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1. A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea   
Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Korean J Pediatr. 2017 March;60(3):94-97.  Publication Date (Online): 2017 March 15
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2. A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia   
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Korean J Pediatr. 2016 November;59(Suppl 1):S49-52.  Publication Date (Online): 2016 November 30
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3. A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism   
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Korean J Pediatr. 2016 November;59(Suppl 1):S116-120.  Publication Date (Online): 2016 November 30
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4. A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome   
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Korean J Pediatr. 2016 November;59(Suppl 1):S103-106.  Publication Date (Online): 2016 November 30
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5. Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes   
Su-Kyeong Hwang, Soonhak Kwon
Korean J Pediatr. 2015 November;58(11):407-414.  Publication Date (Online): 2015 November 15
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6. A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis   
Jae Yeon Kim, Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, So Yoon Ahn, Eun Sun Kim, Ja-Young Seo, Eun-Sook Kang, Sun-Hee Kim, Hee-Jin Kim, Yun Sil Chang, Won Soon Park
Korean J Pediatr. 2014 January;57(1):50-53.  Publication Date (Online): 2012 October 20
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7. Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome   
Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim
Korean J Pediatr. 2014 January;57(1):46-49.  Publication Date (Online): 2012 October 17
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8. A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1   
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Korean J Pediatr. 2014 September;57(9):416-419.  Publication Date (Online): 2013 October 15
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9. A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome   
Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Korean J Pediatr. 2013 August;56(8):355-358.  Publication Date (Online): 2013 July 04
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10. A case of familial X-linked thrombocytopenia with a novel WAS gene mutation   
Eu Kyoung Lee, Yeun-Joo Eem, Nack Gyun Chung, Myung Shin Kim, Dae Chul Jeong
Korean J Pediatr. 2013 June;56(6):265-268.  Publication Date (Online): 2012 October 25
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11. Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups   
Ju-Young Lee (Lee JY), Beom Hee Lee (Lee BH), Gu-Hwan Kim (Kim GH), Chang-Woo Jung (Jung CW), Jin Lee (Lee J), Jin-Ho Choi (Choi JH), Han-Wook Yoo (Yoo HW)
Korean J Pediatr. 2012 February;55(2):48-53.
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12. Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations   
Hunmin Kim (Kim H), Hee Hwang (Hwang H), Hae Il Cheog (Cheog HI), Hye Won Park (Park HW)
Korean J Pediatr. 2011 November;54(11):473-476.
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13. Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A   
Ji-Yeon Han (Han JY), June-Bum Kim (Kim JB)
Korean J Pediatr. 2011 November;54(11):470-472.  Publication Date (Online): 1970 January 01
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14. A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene   
Jung Sook Ha (Ha JS), Yeo Hyang Kim (Kim YH)
Korean J Pediatr. 2011 June;54(6):272-275.
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15. Transient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation   
Jung Hyun Kong (Kong JH), June-Bum Kim (Kim JB)
Korean J Pediatr. 2011 April;54(4):179-182.
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16. A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation   
Se Hee Kim (Kim SH), Byung Chan Lim (Lim BC), Jong Hee Chae (Chae JH), Ki Joong Kim (Kim KJ), Yong Seung Hwang (Hwang YS)
Korean J Pediatr. 2010 June;53(6):718-721.
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17. Direct detection of hemophilia B F9 gene mutation using multiplex PCR and conformation sensitive gel electrophoresis   
Ki Young Yoo (Yoo KY), Hee Jin Kim (Kim HJ), Kwang Chul Lee (Lee KC)
Korean J Pediatr. 2010 March;53(3):397-407.
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18. Two cases of Fabry disease identified in brothers   
Ji Eun Cho (Cho JE), Yong Hee Hong (Hong YH), Yang Gyun Lee (Lee YG), Han Wook Yoo (Yoo HW), Dong Hwan Lee (Lee DH)
Korean J Pediatr. 2010 February;53(2):235-238.
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19. Detection of genetic mutations associated with macrolide resistance of Mycoplasma pneumoniae   
Chi Eun Oh (Oh CE), Eun Hwa Choi (Choi EH), Hoan Jong Lee (Lee HJ)
Korean J Pediatr. 2010 February;53(2):178-183.
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20. A Korean familial case of hereditary complement 7 deficiency   
Moon Kyu Ki (Ki MK), Kyung Yul Lee (Lee KY), Jun Hwa Lee (Lee JH)
Korean J Pediatr. 2009 June;52(6):721-724.
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21. An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis   
Chae Young Yeo (Yeo CY), Young Ok Kim (Kim YO), Myeong Kyu Kim (Kim MK), Ji Youn Kim (Kim JY), Young Kuk Cho (Cho YK), Chan Jong Kim (Kim CJ), Young Jong Woo (Woo YJ)
Korean J Pediatr. 2008 July;51(7):771-774.
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22. Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions   
Hee Moon Kim (Kim HM), Chul Hee Lee (Lee CH), Sung Koo Kim (Kim SK), Tae Jung Sung (Sung TJ)
Korean J Pediatr. 2007 August;50(8):789-793.
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23. Jagged1 mutation analysis in Alagille syndrome patients   
Jae Sung Ko (Ko JS), Hye Ran Yang (Yang HR), Kyung Mo Kim (Kim KM), Jeong Kee Seo (Seo JK)
Korean J Pediatr. 2006 May;49(5):519-522.
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24. Clinical Findings of Genotypes in Korean Patients with Glycogen Storage Disease Type Ia   
Jae Sung Ko (Ko JS), Hye Ran Yang (Yang HR), Jong Won Kim (Kim JW), Jeong Kee Seo (Seo JK)
Korean J Pediatr. 2005 August;48(8):877-880.
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25. A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene   
Hyuk Lee (Lee H), Jung In Park (Park JI), Sun Young Kim, (Kim, SY), Kyeung Hee Moon (Moon KH), Ho Keun Yi (Yi HK), Pyoung Han Hwang (Hwang PH)
Korean J Pediatr. 2005 May;48(5):551-556.
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26. Hyperthyroidism Caused by a Mutation in the Thyrotropin Receptor Gene in Two Brothers   
Jae Hyun Kim (Kim JH), Sung Soo Lee (Lee SS), Jung Sub Lim (Lim JS), Choong Ho Shin (Shin CH), Sei Won Yang (Yang SW)
Korean J Pediatr. 2005 March;48(3):337-341.
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27. A Case of Asymptomatic 3-methylcrotonylglycinuria Detected by Tandem Mass Spectrometry in Newborn Screening   
Jin Kyung Kim (Kim JK)
Korean J Pediatr. 2004 August;47(8):912-916.
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28. A Case of Congenital Partial Nephrogenic Diabetes Insipidus   
Eun Ha Mo (Mo EH), In Hye Nam (Nam IH), Min Ja Chung (Chung MJ), Jae Hong Yu (Yu JH)
Korean J Pediatr. 2002 July;45(7):902-905.
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29. A Case of Rett Syndrome with MECP2 Gene Mutation   
Jin Kyung Kim (Kim JK), Chang Seok Ki (Ki CS), Jong Won Kim (Kim JW)
Korean J Pediatr. 2002 April;45(4):540-544.
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30. Protein and Genetic Analysis of Bruton's Tyrosine Kinase(Btk) in Three Korean X-linked Agammaglobulinemia(XLA) Families   
Eun-Kyeong Jo (Jo EK), Chang-Hwa Song (Song CH), Jeong-Kyu Park (Park JK), Oh Kyung Lee (Lee OK), Dong-Soo Kim (Kim DS)
Korean J Pediatr. 2002 January;45(1):44-54.
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