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Gu-Hwan Kim
Observed names:
G.-H. Kim,
GU-HWAN KIM,
Gu Hwan Kim,
Gu-hwan Kim,
Guhwan Kim,
Gu‐Hwan Kim
show all 6
Institutions:
Asan Medical Center,
University of Ulsan
Observed institutions:
Inje University,
Konkuk University,
Asan Medical Center,
University of Ulsan,
Inje University Haeundae Paik Hospital,
National Cancer Center
show all 6
ORCID:
0000-0002-7056-7446
Observed ORCID:
0000-0002-7056-7446
OpenAlex ID:
A5014622502
Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease
2015
·
Eun-Hee Kim
, Mi-Sun Yum
, et al.
·
Journal of neurosurgery
·
118
PDF
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome
2008
·
Jung Min Ko
, Jae-Min Kim
, et al.
·
Journal of Human Genetics
·
109
Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes
2011
·
Beom Hee Lee
, Jae-Min Kim
, et al.
·
The Journal of Pediatrics
·
97
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation
2013
·
Yoo-Mi Kim
, Minji Kang
, et al.
·
Metabolism
·
79
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development
2017
·
Ja Hye Kim
, Eungu Kang
, et al.
·
Molecular and Cellular Endocrinology
·
76
Clinical and Functional Characteristics of a Novel Heterozygous Mutation of theIGF1RGene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure
2010
·
Jin-Ho Choi
, Minji Kang
, et al.
·
The Journal of Clinical Endocrinology & Metabolism
·
63
PDF
Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome
2005
·
Jin-Ho Choi
, Young-Lim Shin
, et al.
·
Hormone Research in Paediatrics
·
63
High Incidence of PRSS1 and SPINK1 Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis
2011
·
Yeoun Joo Lee
, Kyung Mo Kim
, et al.
·
Journal of Pediatric Gastroenterology and Nutrition
·
62
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort
2011
·
Beom H. Lee
, Joo H. Kim
, et al.
·
Liver International
·
62
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands
2014
·
Hye Young Jin
, Sun-Hee Heo
, et al.
·
Hormone Research in Paediatrics
·
60
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
2019
·
Eungu Kang
, Yoon-Myung Kim
, et al.
·
Journal of Human Genetics
·
57
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
2010
·
Beom Hee Lee
, Sun Hee Heo
, et al.
·
Journal of Human Genetics
·
55
Identification of novelATP7Bgene mutations and their functional roles in Korean patients with Wilson disease
2007
·
Sangwook Park
, Jung-Young Park
, et al.
·
Human Mutation
·
55
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia
2002
·
Han-Wook Yoo
, Young-Lim Shin
, et al.
·
European Journal of Pediatrics
·
53
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism
2015
·
Ja Hye Kim
, Young‐Lim Shin
, et al.
·
Clinical Endocrinology
·
48
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency
2015
·
Jin-Ho Choi
, Beom Hee Lee
, et al.
·
Journal of Human Genetics
·
48
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies
2016
·
Won Kyoung Jhang
, Jin-Ho Choi
, et al.
·
Pediatric Cardiology
·
47
Endocrine dysfunctions in children with Williams-Beuren syndrome
2016
·
Yoon-Myung Kim
, Ja Hyang Cho
, et al.
·
Annals of Pediatric Endocrinology & Metabolism
·
44
PDF
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes
2016
·
Ja Hye Kim
, Beom Hee Lee
, et al.
·
Journal of Human Genetics
·
43
Clinical Characteristics and VPS33B Mutations in Patients With ARC Syndrome
2009
·
Joo Young Jang
, Kyung Mo Kim
, et al.
·
Journal of Pediatric Gastroenterology and Nutrition
·
39
Clinical Characteristics and Molecular Analysis of PIT1, PROP1,LHX3, and HESX1 in Combined Pituitary Hormone Deficiency Patients with Abnormal Pituitary MR Imaging
2003
·
Sung-Su Kim
, Youngho Kim
, et al.
·
Hormone Research in Paediatrics
·
38
Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening ATP7B Major Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System
2008
·
Gu-Hwan Kim
, Jeong Yoon Yang
, et al.
·
Genetic Testing
·
37
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia
2011
·
Jae-Min Kim
, Jin-Ho Choi
, et al.
·
European Journal of Endocrinology
·
36
Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency
2010
·
Jung Min Ko
, Chong-Kun Cheon
, et al.
·
Hormone Research in Paediatrics
·
35
Comparison between Aniridia with and without PAX6 Mutations
2012
·
Hyun Taek Lim
, Eul-Ju Seo
, et al.
·
Ophthalmology
·
34
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Works count:
286
Citation count:
3,596
H-index:
31
I10-index:
114
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