Detalles de la búsqueda
1.
A Case of Fulminant Type 1 Diabetes Mellitus after Recovery from COVID-19 Infection / 임상당뇨병
Journal of Korean Diabetes
; : 278-281, 2022.
Artículo
en Ko
| WPRIM | ID: wpr-969137
2.
Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
Journal of Genetic Medicine
; : 34-38, 2020.
Artículo
| WPRIM | ID: wpr-835776
3.
A novel in-frame mutation at the boundary between exon 21 and intron 21 of SCN4A in a family with paramyotonia congenita
Neurology Asia
; : 207-210, 2020.
Artículo
en Inglés
| WPRIM | ID: wpr-877216
4.
Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
Journal of Genetic Medicine
; : 27-30, 2019.
Artículo
en Inglés
| WPRIM | ID: wpr-764507
5.
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
Annals of Pediatric Endocrinology & Metabolism
; : 253-256, 2019.
Artículo
| WPRIM | ID: wpr-785404
6.
A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
Journal of Genetic Medicine
; : 24-27, 2018.
Artículo
en Inglés
| WPRIM | ID: wpr-715204
7.
Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
Journal of Genetic Medicine
; : 110-114, 2018.
Artículo
en Inglés
| WPRIM | ID: wpr-719103
8.
Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
Journal of Genetic Medicine
; : 20-25, 2016.
Artículo
en Inglés
| WPRIM | ID: wpr-164786
9.
Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea / 소아과
Korean Journal of Pediatrics
; : 264-270, 2014.
Artículo
en Inglés
| WPRIM | ID: wpr-101629
10.
Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
Journal of Genetic Medicine
; : 52-56, 2013.
Artículo
en Inglés
| WPRIM | ID: wpr-83940
11.
Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study
Yonsei Medical Journal
; : 1463-1470, 2013.
Artículo
en Inglés
| WPRIM | ID: wpr-100952
12.
Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
Journal of Korean Medical Science
; : 1586-1590, 2012.
Artículo
en Inglés
| WPRIM | ID: wpr-60490
13.
Clinical Manifestations of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Patients
Journal of Korean Epilepsy Society
; : 24-30, 2011.
Artículo
en Ko
| WPRIM | ID: wpr-788621
14.
Clinical Manifestations of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Patients / 대한간질학회지
Journal of Korean Epilepsy Society
; : 24-30, 2011.
Artículo
en Ko
| WPRIM | ID: wpr-764797
15.
Successful Desensitization of Oxcarbazepine: First Case in Pediatric Patient / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 262-265, 2011.
Artículo
en Inglés
| WPRIM | ID: wpr-32906
16.
Early Diagnosis of Perinatal Ischemic Stroke Based on Clinical and Radiological Characteristics / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 131-141, 2011.
Artículo
en Ko
| WPRIM | ID: wpr-33691
17.
Pulmonary Hypertension Secondary to Bronchopulmonary Dysplasia in Very Low Birth Weight Infants (<1,500 g)
Journal of the Korean Society of Neonatology
; : 96-103, 2011.
Artículo
en Ko
| WPRIM | ID: wpr-213845
18.
Surgical outcome of severe pulmonary arterial hypertension secondary to left-to-right shunt lesions / 소아과
Korean Journal of Pediatrics
; : 195-202, 2010.
Artículo
en Ko
| WPRIM | ID: wpr-125476
19.
Brain abscess in Korean children: A 15-year single center study / 소아과
Korean Journal of Pediatrics
; : 648-652, 2010.
Artículo
en Inglés
| WPRIM | ID: wpr-69730
20.
A case of pulmonary vascular air embolism in a very-low-birth-weight infant with massive hydrops / 소아과
Korean Journal of Pediatrics
; : 1392-1395, 2009.
Artículo
en Inglés
| WPRIM | ID: wpr-55854
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