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| 1 |
A nonsense PAX6 mutation in a family with congenital aniridia
Han, Kyoung Hee;Lee, Hye Jin;Ha, Il-Soo;Kang, Hee Gyung;Cheong, Hae Il;
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The Korean Pediatric Society
, v.59, no.sup1, pp.1-4,
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| 2 |
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Kim, Woojoong;Park, Eujin;Ahn, Yo Han;Lee, Jiwon M.;Kang, Hee Gyung;Kim, Byung Joo;Ha, Il-Soo;Cheong, Hae Il;
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The Korean Pediatric Society
, v.59, no.sup1, pp.5-9,
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| 3 |
Chromosome 11q13 deletion syndrome
Kim, Yu-Seon;Kim, Gun-Ha;Byeon, Jung Hye;Eun, So-Hee;Eun, Baik-Lin;
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The Korean Pediatric Society
, v.59, no.sup1, pp.10-13,
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| 4 |
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Kang, Dong Soo;Shin, Eunsim;Yu, Jeesuk;
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The Korean Pediatric Society
, v.59, no.sup1, pp.14-18,
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| 5 |
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
Lee, Jin Hwan;Kim, Hyo Jeong;Yoon, Jung Min;Cheon, Eun Jung;Lim, Jae Woo;Ko, Kyong Og;Lee, Gyung Min;
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The Korean Pediatric Society
, v.59, no.sup1, pp.19-24,
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| 6 |
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Kim, Yoon-Myung;Choi, In-Hee;Kim, Jun Suk;Kim, Ja Hye;Cho, Ja Hyang;Lee, Beom Hee;Kim, Gu-Hwan;Choi, Jin-Ho;Seo, Eul-Ju;Yoo, Han-Wook;
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The Korean Pediatric Society
, v.59, no.sup1, pp.25-28,
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| 7 |
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1
Lee, Hyun Hee;Hur, Yun Jung;
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The Korean Pediatric Society
, v.59, no.sup1, pp.29-31,
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| 8 |
A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
Lee, Narae;Nam, Sang-Ook;Kim, Young Mi;Lee, Yun-Jin;
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The Korean Pediatric Society
, v.59, no.sup1, pp.32-36,
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| 9 |
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Kim, Ja Hye;Chi, Yang Hyun;Kim, Gu-Hwan;Yoo, Han-Wook;Lee, Jun Hwa;
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The Korean Pediatric Society
, v.59, no.sup1, pp.37-40,
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| 10 |
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
Cho, Kyung Lae;Kim, Yeo Jin;Yang, Song Hyun;Kim, Gu-Hwan;Lee, Jun Hwa;
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The Korean Pediatric Society
, v.59, no.sup1, pp.41-44,
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| 11 |
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
An, Se Jin;Kim, Sook Za;Kim, Gu Hwan;Yoo, Han Wook;Lim, Han Hyuk;
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The Korean Pediatric Society
, v.59, no.sup1, pp.45-48,
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| 12 |
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Lee, Jeongeun;Rhee, Minhee;Min, Taek Ki;Bang, Hae In;Jang, Mi-Ae;Kang, Eun-Suk;Kim, Hee-Jin;Yang, Hyeon-Jong;Pyu, Bok Yang;
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The Korean Pediatric Society
, v.59, no.sup1, pp.49-52,
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| 13 |
Familial Mediterranean fever presenting as fever of unknown origin in Korea
Lee, Jun Hee;Kim, Jong Hyun;Shim, Jung Ok;Lee, Kwang Chul;Lee, Joo Won;Lee, Jung Hwa;Chae, Jae Jin;
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The Korean Pediatric Society
, v.59, no.sup1, pp.53-56,
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| 14 |
Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease
Ju, Hee Young;Kang, Hyoung Jin;Hong, Che Ry;Lee, Ji Won;Kim, Hyery;Song, Sang Hoon;Yu, Kyung-Sang;Jang, In-Jin;Park, June Dong;Park, Kyung Duk;Shin, Hee Young;Kim, Joong-Gon;Ahn, Hyo Seop;
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The Korean Pediatric Society
, v.59, no.sup1, pp.57-59,
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| 15 |
A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review
Kim, Na Yeon;Kim, Joon Hwan;Park, Jin Suk;Kim, Soo Hyun;Cho, Yeon Kyung;Cha, Dong Hyun;Kim, Ki Eun;Kang, Myung Suh;Lim, Kyung Ah;Sheen, Youn Ho;
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The Korean Pediatric Society
, v.59, no.sup1, pp.60-63,
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| 16 |
Congenital miliary tuberculosis in an 18-day-old boy
Lee, Jue Seong;Lim, Chang Hoon;Kim, Eunji;Lim, Hyunwook;Lee, Yoon;Choung, Ji Tae;Yoo, Young;
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The Korean Pediatric Society
, v.59, no.sup1, pp.64-67,
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| 17 |
Acute gastritis associated with Epstein-Barr virus infection in a child
Kim, Ji Mok;Song, Chun Woo;Song, Kyu Sang;Kim, Jae Young;
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The Korean Pediatric Society
, v.59, no.sup1, pp.68-71,
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| 18 |
Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome
Choi, Da Min;Pyun, Jung Eun;Yim, Hyung Eun;Yoo, Kee Hwan;Shim, Jung Ok;Lee, Eun Jung;Won, Nam Hee;
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The Korean Pediatric Society
, v.59, no.sup1, pp.72-75,
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| 19 |
Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
Bae, Mi-Hye;Lee, Yun-Jin;Nam, Sang Ook;Kim, Hye-Young;Kim, Chang Won;Kim, Young Mi;
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The Korean Pediatric Society
, v.59, no.sup1, pp.76-79,
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| 20 |
Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant
Kim, Kyu Seon;Jo, Eun Young;Yu, Jae Hyeon;Kil, Hong Rang;
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The Korean Pediatric Society
, v.59, no.sup1, pp.80-83,
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| 21 |
Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy
Ahn, Kyung Jin;Yoon, Ja Kyoung;Kim, Gi Beom;Kwon, Bo Sang;Bae, Eun Jung;Noh, Chung Il;
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The Korean Pediatric Society
, v.59, no.sup1, pp.84-87,
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| 22 |
Granular cell tumor of the esophagus in an adolescent
Lee, Ji Sun;Ko, Kyung Ok;Lim, Jae Woo;Cheon, Eun Jeong;Kim, Young Jin;Son, Jang Sin;Yoon, Jung Min;
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The Korean Pediatric Society
, v.59, no.sup1, pp.88-91,
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| 23 |
Esthesioneuroblastoma in a boy with 47, XYY karyotype
Jo, Hee Cheol;Lee, Seong Wook;Jung, Hyun Joo;Park, Jun Eun;
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The Korean Pediatric Society
, v.59, no.sup1, pp.92-95,
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| 24 |
Relapsed Wilms' tumor with multiple brain metastasis
Akakin, Akin;Yilmaz, Baran;Eksi, Murat Sakir;Yapicier, Ozlem;Kilic, Turker;
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The Korean Pediatric Society
, v.59, no.sup1, pp.96-98,
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| 25 |
Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy
Kim, Ji Eun;Park, Se Jin;Oh, Ji Young;Jeong, Hyeon Joo;Kim, Ji Hong;Shin, Jae Il;
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The Korean Pediatric Society
, v.59, no.sup1, pp.99-102,
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| 26 |
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
Cho, Hee-Won;Lee, Sang Taek;Cho, Heeyeon;Cheong, Hae Il;
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The Korean Pediatric Society
, v.59, no.sup1, pp.103-106,
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| 27 |
Unusual malignant neoplasms of ovary in children: two cases report
Ghribi, Ali;Bouden, Aicha;Gasmi, Manef;Hamzaoui, Mourad;
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The Korean Pediatric Society
, v.59, no.sup1, pp.107-111,
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| 28 |
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
Lee, Mi Ji;Kim, Byung Young;Ma, Jae Sook;Choi, Young Earl;Kim, Young Ok;Cho, Hwa Jin;Kim, Chan Jong;
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The Korean Pediatric Society
, v.59, no.sup1, pp.112-115,
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| 29 |
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
Park, Ji Sook;Lee, Hong-Jun;Park, Chan-Hoo;
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The Korean Pediatric Society
, v.59, no.sup1, pp.116-120,
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| 30 |
Concomitant occurrence of Turner syndrome and growth hormone deficiency
Yu, Jung;Shin, Ha Young;Lee, Chong Guk;Kim, Jae Hyun;
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The Korean Pediatric Society
, v.59, no.sup1, pp.121-124,
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| 31 |
A pediatric case of idiopathic Harlequin syndrome
Kim, Ju Young;Lee, Moon Souk;Kim, Seung Yeon;Kim, Hyun Jung;Lee, Soo Jin;You, Chur Woo;Kim, Jon Soo;Kang, Ju Hyung;
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The Korean Pediatric Society
, v.59, no.sup1, pp.125-128,
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| 32 |
Ictal sinus pause and myoclonic seizure in a child
Kim, Hye Ryun;Kim, Gun-Ha;Eun, So-Hee;Eun, Baik-Lin;Byeon, Jung Hye;
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The Korean Pediatric Society
, v.59, no.sup1, pp.129-132,
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| 33 |
A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea
Kim, Eun-Hee;Kim, Yeo Jin;Ko, Tae-Sung;Yum, Mi-Sun;Lee, Jun Hwa;
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The Korean Pediatric Society
, v.59, no.sup1, pp.133-138,
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| 34 |
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures
Han, Jee-Yeon;Yum, Mi-Sun;Kim, Eun-Hee;Hong, Seokho;Ko, Tae-Sung;
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The Korean Pediatric Society
, v.59, no.sup1, pp.139-144,
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| 35 |
Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis
Lee, Ki Wuk;Lee, Sang Taek;Cho, Heeyeon;
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The Korean Pediatric Society
, v.59, no.sup1, pp.145-148,
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| 36 |
Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery
Shin, Hyun-Seung;Kim, Jeong A;Kim, Dong-Seok;Lee, Joon Soo;
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The Korean Pediatric Society
, v.59, no.sup1, pp.149-151,
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| 37 |
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Choi, Yeon-Chul;Yum, Mi-Sun;Kim, Min-Jee;Lee, Yun-Jung;Ko, Tae-Sung;
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The Korean Pediatric Society
, v.59, no.sup1, pp.152-156,
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| 38 |
Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl
Seo, Sun Young;You, Su Jeong;
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The Korean Pediatric Society
, v.59, no.sup1, pp.157-160,
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| 39 |
Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature
Tolunay, Orkun;Celik, Tamer;Celik, Umit;Komur, Mustafa;Tanyeli, Zeynep;Sonmezler, Abdurrahman;
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The Korean Pediatric Society
, v.59, no.sup1, pp.161-164,
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