Works by 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
Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly.
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- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. e19, doi. 10.1097/MPG.0b013e3182a95a42
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- Publication type:
- Article
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
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- 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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- 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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- 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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- Article
Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
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- Molecular Medicine, 2017, v. 23, p. 149, doi. 10.2119/molmed.2017.00023
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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
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, 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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- 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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- 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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- 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
The CCR5 (−2135C/T) Polymorphism may be Associated with the Development of Kawasaki Disease in Korean Children.
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- Journal of Clinical Immunology, 2009, v. 29, n. 1, p. 22, doi. 10.1007/s10875-008-9218-z
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- Article
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
Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 1, p. E130, doi. 10.1210/jc.2010-1789
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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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- 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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- 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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- 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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- 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
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
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- Article
Identification of 15 loci influencing height in a Korean population.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 27, doi. 10.1038/jhg.2009.116
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- Publication type:
- Article
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 999, doi. 10.1007/s10038-008-0343-6
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- Publication type:
- Article
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
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- Journal of Human Genetics, 2005, v. 50, n. 12, p. 648, doi. 10.1007/s10038-005-0312-2
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- 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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- Article
Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report.
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- Annals of Rehabilitation Medicine, 2019, v. 43, n. 5, p. 621, doi. 10.5535/arm.2019.43.5.621
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- Article
Clinical course and endocrinological characteristics of prolactinoma in children and adolescents.
- 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
Congenital lipoid adrenal hyperplasia in twin sisters.
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- 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
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- Abstract
Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations.
- Published in:
- 2013
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- Abstract
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
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- Publication type:
- Abstract
Management of rasopathies.
- Published in:
- 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.
- Published in:
- 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