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1 . Academic Journal
Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study
저자
by
Hey-Joon Son
;
Minhye Kim
;
Hye Jin Kim
;
Jae So Cho
;
Soo Yeon Kim
, et al.
소스
Annals of Child Neurology(구 대한소아신경학회지) 32. 2 (2024): 115-121.
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7 . Academic Journal
Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series
저자
by
Hye Jin Kim
;
Young Joon Ko
;
Soo Yeon Kim
;
Anna Cho
;
Hunmin Kim
, et al.
소스
Annals of Child Neurology(구 대한소아신경학회지) 30. 4 (2022): 173-179.
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7 . Academic Journal
Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea
저자
by
Seungbok Lee
;
Soo Yeon Kim
;
Byung Chan Lim
;
Ki Joong Kim
;
Jong Hee Chae
, et al.
소스
Annals of Child Neurology(구 대한소아신경학회지) 30. 3 (2022): 95-101.
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7 . Academic Journal
Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients
저자
by
Ji Ye Ahn
;
Soo Yeon Kim
;
Byung Chan Lim
;
Ki Joong Kim
;
Jong-Hee Chae
.
소스
Annals of Child Neurology(구 대한소아신경학회지) 30. 3 (2022): 120-126.
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7 . Academic Journal
Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea
저자
by
이승복
;
김수연
;
Byung Chan Lim
;
Ki Joong Kim
;
채종희
, et al.
소스
Annals of Child Neurology, 30(3), pp.95-101 Jul, 2022
Scopus
KCI 등재 저널
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7 . Academic Journal
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy
저자
by
Hyewon Woo
;
이승복
;
한지연
;
Woo Joong Kim
;
Man Jin Kim
, et al.
소스
Annals of Child Neurology, 30(3), pp.127-133 Jul, 2022
Scopus
KCI 등재 저널
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7 . Academic Journal
Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations
저자
by
Ji Yeon Han
;
Seungbok Lee
;
Hyewon Woo
;
Soo Yeon Kim
;
Hunmin Kim
, et al.
소스
Annals of Child Neurology(구 대한소아신경학회지) 29. 4 (2021): 149-158.
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7 . Academic Journal
A case of TBC1D32-related ciliopathy with novel compound heterozygous variants
저자
by
Ji Ye Ahn
;
Soo Yeon Kim
;
Byung Chan Lim
;
Ki Joong Kim
;
Jong Hee Chae
.
소스
대한의학유전학회지 18. 1 (2021): 64-69.
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7 . Academic Journal
MPV17 관련 간뇌 사립체 DNA 고갈 증후군
MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome
저자
by
홍기택 / Ki Teak Hong
;
임병찬 / Byung Chan Lim
;
문진수 / Jin Soo Moon
;
고재성 / Jae Sung Ko
.
소스
대한소화기학회지 / The Korean Journal of Gastroenterology
. May 31, 2021 77(5):248
Full Text (KISS)
Web of Science
Scopus
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6 . Academic Journal
Clinical and Genetic Spectrum of STXBP1 Encephalopathy in the Korean Pediatric Population
저자
by
Woo Joong Kim
;
Young Kyu Shim
;
Young Jun Ko
;
Soo Yeon Kim
;
Hunmin Kim
, et al.
소스
Annals of Child Neurology(구 대한소아신경학회지) 29. 2 (2021): 68-74.
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