Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Works by Gu-Hwan Kim
Results: 87
1
2
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
- Published in:
- 2009
- By:
- Publication type:
- journal article
3
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
- Published in:
- Liver International, 2011, v. 31, n. 6, p. 833, doi. 10.1111/j.1478-3231.2011.02503.x
- By:
- Publication type:
- Article
4
Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. e19, doi. 10.1097/MPG.0b013e3182a95a42
- By:
- Publication type:
- Article
5
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
- Published in:
- 2009
- By:
- Publication type:
- journal article
6
Giant bilateral symptomatic adrenal myelolipomas manifested in an adult with congetnial adrenal hyperplasia.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
7
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
8
Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
9
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
10
Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.
- Published in:
- 2019
- By:
- Publication type:
- Abstract
11
Molecular and Clinical Characterization of Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 6, p. 707
- By:
- Publication type:
- Article
12
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Published in:
- 2020
- By:
- Publication type:
- journal article
13
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
14
Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.
- Published in:
- Movement Disorders, 2008, v. 23, n. 15, p. 2251, doi. 10.1002/mds.22337
- By:
- Publication type:
- Article
15
Focal hand dystonia in a patient with PANK2 mutation.
- Published in:
- Movement Disorders, 2008, v. 23, n. 3, p. 466, doi. 10.1002/mds.21880
- By:
- Publication type:
- Article
16
A Novel Small Insertion Mutation, C.1030_1031ins (T) in α-Galactosidase A Leads to Renal Variant Fabry Disease.
- Published in:
- Renal Failure, 2012, v. 34, n. 3, p. 390, doi. 10.3109/0886022X.2011.647300
- By:
- Publication type:
- Article
17
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
- By:
- Publication type:
- Article
18
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30
- By:
- Publication type:
- Article
19
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
- By:
- Publication type:
- Article
20
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
- By:
- Publication type:
- Article
21
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116
- By:
- Publication type:
- Article
22
Low prevalence of classical galactosemia in Korean population.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
- By:
- Publication type:
- Article
23
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 8, p. 512, doi. 10.1038/jhg.2010.58
- By:
- Publication type:
- Article
24
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 999, doi. 10.1007/s10038-008-0343-6
- By:
- Publication type:
- Article
25
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
- Published in:
- 2018
- By:
- Publication type:
- journal article
26
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944
- By:
- Publication type:
- Article
27
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
- Published in:
- Clinical Endocrinology, 2011, v. 75, n. 2, p. 207, doi. 10.1111/j.1365-2265.2011.04026.x
- By:
- Publication type:
- Article
28
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.
- Published in:
- Clinical Endocrinology, 2010, v. 73, n. 1, p. 66, doi. 10.1111/j.1365-2265.2010.03782.x
- By:
- Publication type:
- Article
29
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 5, p. 283, doi. 10.1159/000493468
- By:
- Publication type:
- Article
30
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 73, doi. 10.1159/000381624
- By:
- Publication type:
- Article
31
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 116, doi. 10.1159/000431324
- By:
- Publication type:
- Article
32
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466
- By:
- Publication type:
- Article
33
Three Novel Pathogenic Mutations in K<sub>ATP</sub> Channel Genes and Somatic Imprinting Alterations of the 11p15 Region in Pancreatic Tissue in Patients with Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 204, doi. 10.1159/000371445
- By:
- Publication type:
- Article
34
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 252, doi. 10.1159/000362235
- By:
- Publication type:
- Article
35
Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677
- By:
- Publication type:
- Article
36
Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 1, p. 41, doi. 10.1159/000271915
- By:
- Publication type:
- Article
37
Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome.
- Published in:
- Journal of Genetics, 2012, v. 91, n. 2, p. 233, doi. 10.1007/s12041-012-0165-3
- By:
- Publication type:
- Article
38
Comparative proteomic analysis in children with idiopathic short stature ( ISS) before and after short-term recombinant human growth hormone (rh GH) therapy.
- Published in:
- Proteomics, 2013, v. 13, n. 7, p. 1211, doi. 10.1002/pmic.201200131
- By:
- Publication type:
- Article
39
Proteomic analysis of the hepatic tissue of Long-Evans Cinnamon (LEC) rats according to the natural course of Wilson disease.
- Published in:
- Proteomics, 2011, v. 11, n. 18, p. 3698, doi. 10.1002/pmic.201100122
- By:
- Publication type:
- Article
40
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.
- Published in:
- Pediatrics International, 2011, v. 53, n. 4, p. 609, doi. 10.1111/j.1442-200X.2011.03418.x
- By:
- Publication type:
- Article
41
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 4, p. 360
- By:
- Publication type:
- Article
42
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 1, p. 54, doi. 10.6065/apem.2346014.007
- By:
- Publication type:
- Article
43
Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 3, p. 184, doi. 10.6065/apem.2244152.076
- By:
- Publication type:
- Article
44
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 2, p. 77, doi. 10.6065/apem.2346108.054
- By:
- Publication type:
- Article
45
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 1, p. 22, doi. 10.6065/apem.2142144.072
- By:
- Publication type:
- Article
46
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 2, p. 97, doi. 10.6065/apem.1938152.076
- By:
- Publication type:
- Article
47
Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
48
Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2016, v. 21, n. 1, p. 26, doi. 10.6065/apem.2016.21.1.26
- By:
- Publication type:
- Article
49
Endocrine dysfunctions in children with Williams- Beuren syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2016, v. 21, n. 1, p. 15, doi. 10.6065/apem.2016.21.1.15
- By:
- Publication type:
- Article
50
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2016, v. 21, n. 1, p. 1, doi. 10.6065/apem.2016.21.1.1
- By:
- Publication type:
- Article