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1 . Academic Journal
COVID-19 감염 후 발생한 전격성 1형당뇨병 1예
A Case of Fulminant Type 1 Diabetes Mellitus after Recovery from COVID-19 Infection
저자
by
서동우 / Dong Woo Suh
;
이차곤 / Cha Gon Lee
;
이홍규 / Hong Kyu Lee
;
김진택 / Jin Taek Kim
.
소스
당뇨병(JKD) / The Journal of Korean Diabetes
. Dec 31, 2022 23(4):278
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6 . Academic Journal
Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
저자
by
Woong-Woo Lee
;
Jong-Moon Choi
;
이차곤
.
소스
Journal of Genetic Medicine, 17(1), pp.34-38 Jun, 2020
Full Text (스콜라)
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5 . Academic Journal
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
저자
by
이차곤
;
Ja-Hyun Jang
;
서지영
.
소스
Annals of Pediatric Endocrinology & Metabolism, 24(4), pp.253-256 Dec, 2019
Open Access (KCI)
Scopus
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5 . Academic Journal
Smith–Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
저자
by
Dohwan Lee
;
Ja-Hyun Jang
;
이차곤
.
소스
Journal of Genetic Medicine, 16(1), pp.27-30 Jun, 2019
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5 . Academic Journal
Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
저자
by
Min Jeong Jang
;
이차곤
;
Hyun Jung Kim
.
소스
Journal of Genetic Medicine, 15(2), pp.110-114 Dec, 2018
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5 . Dissertation/ Thesis
Epilepsy gene-panel sequencing in Korean patients with common idiopathic/genetic generalized epilepsy syndromes
저자
by
이차곤 / Lee, Cha Gon
.
소스
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3 . Academic Journal
A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
저자
by
Sungwon Hong
;
이차곤
.
소스
Journal of Genetic Medicine, 15(1), pp.24-27 Jun, 2018
Full Text (스콜라)
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4 . Academic Journal
Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
저자
by
최정윤
;
윤형호
;
이차곤
.
소스
Journal of Genetic Medicine, 13(1), pp.20-25 Jun, 2016
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5 . Academic Journal
Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea
저자
by
이차곤
;
김지혜
;
이문향
;
이지훈
.
소스
Clinical and Experimental Pediatrics, 57(6), pp.264-270 Jun, 2014
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6 . Academic Journal
Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study
저자
by
이차곤
;
박상진
;
윤전노
;
고정민
;
김현주
, et al.
소스
Yonsei Medical Journal, 54(6), pp.1463-1470 Nov, 2013
Open Access (KCI)
Web of Science
Scopus
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