Works matching AU Han-Wook Yoo
Results: 153
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
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- Publication type:
- journal article
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
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- 2009
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- Publication type:
- journal article
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
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- Pediatric Cardiology, 2016, v. 37, n. 8, p. 1539, doi. 10.1007/s00246-016-1468-6
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- Article
KMD: Korean mutation database for genes related to diseases.
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- Human Mutation, 2012, v. 33, n. 4, p. E2332, doi. 10.1002/humu.22039
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- Article
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
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- Human Mutation, 2007, v. 28, n. 11, p. 1108, doi. 10.1002/humu.20574
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- Article
Identification of novel mutations in the human ornithine transcarbamylase ( OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
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- Human Mutation, 2006, v. 27, n. 11, p. 1159, doi. 10.1002/humu.9465
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- Article
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
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- Human Mutation, 1998, v. 11, n. 4, p. 275, doi. 10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO;2-L
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- Article
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
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- Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862
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- Article
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 5, p. 283, doi. 10.1159/000493468
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- Article
Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 1, p. 44, doi. 10.1159/000491016
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- Article
Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 1, p. 54, doi. 10.1159/000489262
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- Article
Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 325, doi. 10.1159/000444525
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- Article
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 73, doi. 10.1159/000381624
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- Article
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 116, doi. 10.1159/000431324
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- Article
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466
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- Article
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.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 204, doi. 10.1159/000371445
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- Article
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands.
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- Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 252, doi. 10.1159/000362235
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- Article
Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.
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- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677
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- Article
Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency.
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- Hormone Research in Paediatrics, 2010, v. 73, n. 1, p. 41, doi. 10.1159/000271915
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- Article
Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13861, doi. 10.3390/ijms232213861
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- Article
Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2591, doi. 10.3390/ijms18122591
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- Article
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
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- 2018
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- Publication type:
- journal article
Identification of a novel human Rad51 variant that promotes DNA strand exchange.
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- Nucleic Acids Research, 2008, v. 36, n. 10, p. 3226, doi. 10.1093/nar/gkn171
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- Article
Comparison of Clinical, Radiological and Molecular Findings in Korean Infants and Children with Achondroplasia and Hypochondroplasia.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 10, p. 999
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- Article
Molecular and Clinical Characterization of Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
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- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 6, p. 707
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- Article
Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome.
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- Journal of Genetics, 2012, v. 91, n. 2, p. 233, doi. 10.1007/s12041-012-0165-3
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- Article
Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial.
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- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00904-5
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- Article
Comparative proteomic analysis in children with idiopathic short stature ( ISS) before and after short-term recombinant human growth hormone (rh GH) therapy.
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- Proteomics, 2013, v. 13, n. 7, p. 1211, doi. 10.1002/pmic.201200131
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- Article
Proteomic analysis of the hepatic tissue of Long-Evans Cinnamon (LEC) rats according to the natural course of Wilson disease.
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- Proteomics, 2011, v. 11, n. 18, p. 3698, doi. 10.1002/pmic.201100122
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- Article
Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.
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- Journal of Neuro-Oncology, 2018, v. 138, n. 1, p. 55, doi. 10.1007/s11060-018-2765-0
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- Article
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review.
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- 2023
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- Publication type:
- Case Study
FABRY DISEASE PRESENTING WITH HYPERTROPHIC CARDIOMYOPATHY AND TRICUSPID REGURGITATION.
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- 2016
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- Publication type:
- Case Study
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
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- 2011
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- Publication type:
- journal article
A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth.
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- 2007
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- Publication type:
- Report
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate.
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- European Journal of Pediatrics, 2006, v. 165, n. 2, p. 138, doi. 10.1007/s00431-005-0009-8
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- Publication type:
- Article
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.
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- 2002
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- Publication type:
- journal article
Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
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- 2020
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- Publication type:
- Correction Notice
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
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- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01709-4
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- Article
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
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- 2015
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- Publication type:
- journal article
Development of SNP-based human identification system.
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- International Journal of Legal Medicine, 2010, v. 124, n. 2, p. 125, doi. 10.1007/s00414-009-0389-9
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- Article
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
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- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0147-5
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- Publication type:
- Article
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
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- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 160, doi. 10.1186/s13287-015-0147-5
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- Publication type:
- Article
Clinical course and endocrinological characteristics of prolactinoma in children and adolescents.
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- 2013
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- Publication type:
- Abstract
Congenital lipoid adrenal hyperplasia in twin sisters.
- Published in:
- 2013
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- Publication type:
- Abstract
Giant bilateral symptomatic adrenal myelolipomas manifested in an adult with congetnial adrenal hyperplasia.
- Published in:
- 2013
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- Publication type:
- Abstract
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations.
- Published in:
- 2013
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- Publication type:
- Abstract
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
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- 2013
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- Abstract
Management of rasopathies.
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- 2013
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- Abstract
Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.
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- Journal of Neurosurgery, 2016, v. 124, n. 5, p. 1221, doi. 10.3171/2015.4.JNS142900
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- Publication type:
- Article