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G

Gu-Hwan Kim

Asan Medical Center

30H指数
255论文数
3.1K被引数
收录论文 52
发表时间
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Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study扩展β-微管蛋白病相关的遗传和临床谱：一项韩国研究
errJournal of Human Genetics
IF2.5
err2025-10-29
err0
PREAI
errSoojin Hwang; Hyunwoo Bae; Dohyung Kim; Mi-Sun Yum; Min-Jee Kim; Ji-Hee Yoon; Ja Hye Kim; Go Hun Seo; Gu-Hwan Kim; Hyosang Do; Soyoung Kim; Hee Kyung Jin; Jae-sung Bae; Beom Hee Lee
err分享
err收藏
Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases线粒体疾病患者的内分泌表现和长期预后
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-05-17
err0
errOAAI
errKim, Ja Hye; Kim, Dohyung; Hwang, Soojin; Kim, Gu-Hwan; Lee, Beom Hee; Yoo, Han-Wook
err分享
err收藏
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome超越CHD7基因：揭示临床疑似CHARGE综合征中的遗传多样性
errJOURNAL OF HUMAN GENETICS
IF2.5
err2025-02-25
err0
PREAI
errKim, Dohyung; Yoon, Ji-Hee; Bae, Hyunwoo; Hwang, Soojin; Seo, Go Hun; Koh, June-Young; Ju, Young Seok; Do, Hyo-Sang; Kim, Soyoung; Choi, In Hee; Kim, Gu-Hwan; Kim, Ja Hye; Choi, Jin-Ho; Lee, Beom Hee
err分享
err收藏
Clinical and Genetic Characteristics Associated With Survival Outcome in Late-Onset Huntington's Disease in South Korea
errJOURNAL OF CLINICAL NEUROLOGY
IF3.1
err2024-01-01
err2
errOAAI
errHwang, Yun Su; Jo, Sungyang; Kim, Gu-Hwan; Lee, Jee-Young; Ryu, Ho-Sung; Oh, Eungseok; Lee, Seung-Hwan; Kim, Young Seo; Chung, Sun Ju
err分享
err收藏
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome
errANNALS OF LABORATORY MEDICINE
IF3.9
err2022-11-01
err3
errOAAI
errKim, Hwa Young; Shin, Choong Ho; Lee, Young Ah; Shin, Chang Ho; Kim, Gu-Hwan; Ko, Jung Min
err分享
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Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency
errCLINICA CHIMICA ACTA
IF2.9
err2022-02-01
err8
PREAI
errChoi, Yunha; Oh, Arum; Lee, Yena; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook; Lee, Beom Hee
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err收藏
Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2021-12-07
err4
errOAAI
errKim, Hyery; Lee, Beom Hee; Do, Hyo-Sang; Kim, Gu-Hwan; Kang, Sunghan; Koh, Kyung-Nam; Im, Ho Joon
err分享
err收藏
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2020-02-11
err18
errOAAI
errKim, Yoo-Mi; Choi, Jin-Ho; Lee, Beom-Hee; Kim, Gu-Hwan; Kim, Kyung-Mo; Yoo, Han-Wook
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Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants韩国lesch-nyhan综合征和减毒临床变异患者的表型和分子谱
errMETABOLIC BRAIN DISEASE
IF3.5
err2019-05-25
err7
PREAI
errCho, Ja Hyang; Choi, Jin-Ho; Heo, Sun Hee; Kim, Gu-Hwan; Yum, Mi-Sun; Lee, Beom Hee; Yoo, Han-Wook
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Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis
errCLINICA CHIMICA ACTA
IF2.9
err2018-07-01
err1
PREAI
errKang, Eungu; Kim, Yoon-Myung; Heo, Sun Hee; Jung, Euiseok; Kim, Ki-Soo; Yoo, Hyun Ju; Kim, Eun Na; Kim, Chong Jai; Kim, Gu-Hwan; Lee, Beom Hee
err分享
err收藏
Biochemical and molecular characterisation of neurological Wilson disease
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2018-04-04
err8
PREAI
errSeo, Go Hun; Kim, Yoon-Myung; Oh, Seak Hee; Chung, Sun Ju; Choi, In Hee; Kim, Gu-Hwan; Yum, Mi-Sun; Choi, Jin-Ho; Kim, Kyung Mo; Ko, Tae-Sung; Lee, Beom Hee; Yoo, Han-Wook
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Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2017-08-23
err28
errOAAI
errHeo, Sun Hee; Kang, Eungu; Kim, Yoon-Myung; Go, Heounjeong; Kim, Kyung Yong; Jung, Jae Yong; Kang, Minji; Kim, Gu-Hwan; Kim, Jae-Min; Choi, In-Hee; Choi, Jin-Ho; Jung, Sung-Chul; Desnick, Robert J.; Yoo, Han-Wook; Lee, Beom Hee
err分享
err收藏
Mutation Spectrum of STAR and the Founder Effect of p.Q258*in Korean Patients with Congenital Lipoid Adrenal Hyperplasia
errMOLECULAR MEDICINE
IF6.4
err2017-05-02
err19
errOAAI
errKang, Eungu; Kim, Yoon-Myung; Kim, Gu-Hwan; Lee, Beom Hee; Yoo, Han-Wook; Choi, Jin-Ho
err分享
err收藏
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development
errMOLECULAR AND CELLULAR ENDOCRINOLOGY
IF3.6
err2017-03-01
err62
PREAI
errKim, Ja Hye; Kang, Eungu; Heo, Sun Hee; Kim, Gu-Hwan; Jang, Ja-Hyun; Cho, Eun-Hae; Lee, Beom Hee; Yoo, Han-Wook; Choi, Jin-Ho
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Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy韩国脊髓性肌萎缩症患者中SMN1和NAIP缺失的基因型-表型相关性
errJOURNAL OF CLINICAL NEUROLOGY
IF3.1
err2017-01-01
err18
errOAAI
errAhn, Eun-Ji; Yum, Mi-Sun; Kim, Eun-Hee; Yoo, Han-Wook; Lee, Beom Hee; Kim, Gu-Hwan; Ko, Tae-Sung
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DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
errJOURNAL OF KOREAN MEDICAL SCIENCE
IF2.3
err2017-01-01
err11
errOAAI
errCho, Ja Hyang; Kang, Eungu; Lee, Beom Hee; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook
err分享
err收藏
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria儿童胱氨酸尿症患者的基因型和表型分析
errJOURNAL OF KOREAN MEDICAL SCIENCE
IF2.3
err2017-01-01
err13
errOAAI
errKim, Ji Hyun; Park, Eujin; Hyun, Hye Sun; Lee, Beom Hee; Kim, Gu-Hwan; Lee, Joo Hoon; Park, Young Seo; Kang, Hee Gyung; Ha, Il-Soo; Cheong, Hae Il
err分享
err收藏
Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease
errJOURNAL OF NEUROSURGERY
IF3.6
err2016-05-01
err96
errOAAI
errKim, Eun-Hee; Yum, Mi-Sun; Ra, Young-Shin; Park, Jun Bum; Ahn, Jae Sung; Kim, Gu-Hwan; Goo, Hyun Woo; Ko, Tae-Sung; Yoo, Han-Wook
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err收藏
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies
errMOLECULAR MEDICINE
IF6.4
err2016-02-18
err11
errOAAI
errKim, Yoo-Mi; Kim, Ja Hye; Choi, Jin-Ho; Kim, Gu-Hwan; Kim, Jae-Min; Kang, Minji; Choi, In-Hee; Cheon, Chong Kun; Sohn, Young Bae; Maccarana, Marco; Yoo, Han-Wook; Lee, Beom Hee
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Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome (vol 12, pg 85, 2016)
errJOURNAL OF CLINICAL NEUROLOGY
IF3.1
err2016-01-01
err1
errOAAI
errKim, Eun-Hee; Yum, Mi-Sun; Lee, Beom-Hee; Kim, Hyo-Won; Lee, Hyun-Jeoung; Kim, Gu-Hwan; Lee, Yun-Jeong; Yoo, Han-Wook; Ko, Tae-Sung
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研究方向

暂时未获取到该数据
合作学者
合作期刊
R
Robert J. Desnick
H 指数: 111 · 论文数: 1.3K
Y
Young Seok Ju
H 指数: 61 · 论文数: 259
J
Jae‐Min Kim
H 指数: 58 · 论文数: 629
S
Sun‐Young Lee
H 指数: 54 · 论文数: 492
S
Sun Young Kim
H 指数: 51 · 论文数: 717
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