Works by Yoo, Han-Wook
Results: 78
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
- Published in:
- 2009
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- Publication type:
- journal article
Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.
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- JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10744
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- Publication type:
- Article
First‐in‐Asian Phase I Study of the Anti‐Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X‐linked Hypophosphatemia.
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- JBMR Plus, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1002/jbm4.10074
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- Publication type:
- Article
A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.
- Published in:
- 2014
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- Publication type:
- Letter
Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease.
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- Proteomics - Clinical Applications, 2009, v. 3, n. 10, p. 1185, doi. 10.1002/prca.200800057
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- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
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- Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.
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- Movement Disorders, 2008, v. 23, n. 15, p. 2251, doi. 10.1002/mds.22337
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- Publication type:
- Article
Focal hand dystonia in a patient with PANK2 mutation.
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- Movement Disorders, 2008, v. 23, n. 3, p. 466, doi. 10.1002/mds.21880
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- Publication type:
- Article
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height.
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- Human Genetics, 2012, v. 131, n. 3, p. 471, doi. 10.1007/s00439-011-1096-4
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- Publication type:
- Article
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2127
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
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- Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872
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- Publication type:
- Article
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
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- Publication type:
- Article
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30
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- Publication type:
- Article
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.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
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- Publication type:
- Article
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
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- Publication type:
- Article
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116
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- Publication type:
- Article
Low prevalence of classical galactosemia in Korean population.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
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- Publication type:
- Article
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector.
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- Journal of Human Genetics, 2004, v. 49, n. 10, p. 536, doi. 10.1007/s10038-004-0186-8
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- Publication type:
- Article
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
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- 2013
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- Publication type:
- Abstract
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01104-9
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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
A Novel Small Insertion Mutation, C.1030_1031ins (T) in α-Galactosidase A Leads to Renal Variant Fabry Disease.
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- Renal Failure, 2012, v. 34, n. 3, p. 390, doi. 10.3109/0886022X.2011.647300
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- Article
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
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- Pediatrics International, 2015, v. 57, n. 4, p. 552, doi. 10.1111/ped.12602
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Trajectories in glycated hemoglobin and body mass index in children and adolescents with diabetes using the common data model.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94194-5
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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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- Publication type:
- 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
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
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- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
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- Publication type:
- 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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- Publication type:
- Article
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
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- Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944
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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.
- Published in:
- 2002
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- Publication type:
- journal 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article