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- A nonsense
PAX6 mutation in a family with congenital aniridia - Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4.
- A familial case of Blau syndrome caused by a novel
NOD2 genetic mutation - Woojoong Kim, Eujin Park, Yo Han Ahn et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S5-S9.
- Chromosome 11q13 deletion syndrome
- Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S10-S13.
- 1p36 deletion syndrome confirmed by fluorescence
in situ hybridization and array-comparative genomic hybridization analysis - Dong Soo Kang, Eunsim Shin, Jeesuk Yu
- Clin Exp Pediatr. 2016;59(Suppl 1):S14-S18.
- Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
- Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S19-S24.
- Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
- Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28.
- Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of
SLC2A1 - Hyun Hee Lee, Yun Jung Hur
- Clin Exp Pediatr. 2016;59(Suppl 1):S29-S31.
- A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
- Narae Lee, Sang-Ook Nam, Young Mi Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S32-S36.
- Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
- Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S37-S40.
- Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
- Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S41-S44.
- Compound heterozygous mutations of
ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review - Se Jin An, Sook Za Kim, Gu Hwan Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48.
- 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 et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S49-S52.
- Familial Mediterranean fever presenting as fever of unknown origin in Korea
- Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S53-S56.
- Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease
- Hee Young Ju, Hyoung Jin Kang, Che Ry Hong et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S57-S59.
- A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review
- Na Yeon Kim, Joon Hwan Kim, Jin Suk Park et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S60-S63.
- Congenital miliary tuberculosis in an 18-day-old boy
- Jue Seong Lee, Chang Hoon Lim, Eunji Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S64-S67.
- Acute gastritis associated with Epstein-Barr virus infection in a child
- Ji Mok Kim, Chun Woo Song, Kyu Sang Song et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S68-S71.
- Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome
- Da Min Choi, Jung Eun Pyun, Hyung Eun Yim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S72-S75.
- Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
- Mi-Hye Bae, Yun-Jin Lee, Sang Ook Nam et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S76-S79.
- Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant
- Kyu Seon Kim, Eun Young Jo, Jae Hyeon Yu et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S80-S83.
- Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy
- Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S84-S87.
- Granular cell tumor of the esophagus in an adolescent
- Ji Sun Lee, Kyung Ok Ko, Jae Woo Lim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S88-S91.
- Esthesioneuroblastoma in a boy with 47, XYY karyotype
- Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S92-S95.
- Relapsed Wilms' tumor with multiple brain metastasis
- Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S96-S98.
- Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy
- Ji Eun Kim, Se Jin Park, Ji Young Oh et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S99-S102.
- A novel mutation of
CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome - Hee-Won Cho, Sang Taek Lee, Heeyeon Cho et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S103-S106.
- Unusual malignant neoplasms of ovary in children: two cases report
- Ali Ghribi, Aicha Bouden, Manef Gasmi et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S107-S111.
- Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
- Mi Ji Lee, Byung Young Kim, Jae Sook Ma et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S112-S115.
- A novel mutation of
ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism - Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
- Clin Exp Pediatr. 2016;59(Suppl 1):S116-S120.
- Concomitant occurrence of Turner syndrome and growth hormone deficiency
- Jung Yu, Ha Young Shin, Chong Guk Lee et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S121-S124.
- A pediatric case of idiopathic Harlequin syndrome
- Ju Young Kim, Moon Souk Lee, Seung Yeon Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S125-S128.
- Ictal sinus pause and myoclonic seizure in a child
- Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S129-S132.
- A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea
- Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S133-S138.
- A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures
- Jee-Yeon Han, Mi-Sun Yum, Eun-Hee Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S139-S144.
- Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis
- Ki Wuk Lee, Sang Taek Lee, Heeyeon Cho
- Clin Exp Pediatr. 2016;59(Suppl 1):S145-S148.
- Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery
- Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S149-S151.
- Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
- Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S152-S156.
- Paroxysmal kinesigenic dyskinesia in a patient with a
PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl - Sun Young Seo, Su Jeong You
- Clin Exp Pediatr. 2016;59(Suppl 1):S157-S160.
- Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature
- Orkun Tolunay, Tamer Çelik, Ümit Çelik et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S161-S164.