Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.
- Published in:
- Journal of Neuro-Oncology, 2018, v. 138, n. 1, p. 55, doi. 10.1007/s11060-018-2765-0
- By:
- Publication type:
- Article
Works matching AU Yoo, Han-Wook
Results: 80
1
2
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
- Published in:
- 2009
- By:
- Publication type:
- journal article
3
Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
4
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
- Published in:
- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01709-4
- By:
- Publication type:
- Article
5
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
6
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
7
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
8
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
9
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
10
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.
- Published in:
- 2019
- By:
- Publication type:
- journal article
11
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
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- Publication type:
- Article
12
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
13
A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 7, p. 1396, doi. 10.1002/ajh.27302
- By:
- Publication type:
- Article
14
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
15
A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.
- Published in:
- 2014
- By:
- Publication type:
- Letter
16
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872
- 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
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 10, p. 536, doi. 10.1007/s10038-004-0186-8
- By:
- Publication type:
- Article
24
Identification of a novel human Rad51 variant that promotes DNA strand exchange.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 10, p. 3226, doi. 10.1093/nar/gkn171
- By:
- Publication type:
- Article
25
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
- By:
- Publication type:
- Article
26
Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-i PSCs.
- Published in:
- Stem Cells, 2015, v. 33, n. 5, p. 1447, doi. 10.1002/stem.1963
- By:
- Publication type:
- Article
27
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
- Published in:
- 2018
- By:
- Publication type:
- journal article
28
Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.
- Published in:
- JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10744
- By:
- Publication type:
- Article
29
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.
- Published in:
- JBMR Plus, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1002/jbm4.10074
- By:
- Publication type:
- Article
30
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
31
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
32
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
33
Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 1, p. 44, doi. 10.1159/000491016
- By:
- Publication type:
- Article
34
Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 1, p. 54, doi. 10.1159/000489262
- By:
- Publication type:
- Article
35
Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 325, doi. 10.1159/000444525
- By:
- Publication type:
- Article
36
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
37
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
38
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
39
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
40
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
41
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
42
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
43
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
44
Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13861, doi. 10.3390/ijms232213861
- By:
- Publication type:
- Article
45
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
46
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
47
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
- Published in:
- 2011
- By:
- Publication type:
- journal article
48
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
49
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
50
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
- By:
- Publication type:
- journal article