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Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670608
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- Publication type:
- Article
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
- Published in:
- 2017
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- Publication type:
- journal article
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-42
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- Publication type:
- Article
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).
- Published in:
- 2013
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- Publication type:
- journal article
Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.
- Published in:
- Cerebellum, 2020, v. 19, n. 6, p. 907, doi. 10.1007/s12311-020-01173-z
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- Publication type:
- Article
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25
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- Publication type:
- Article
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 11, p. 728, doi. 10.1038/jhg.2013.92
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- Publication type:
- Article
The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 3, p. 150, doi. 10.1038/jhg.2012.148
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- Publication type:
- Article
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 2, p. 73, doi. 10.1038/jhg.2012.135
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- Publication type:
- Article
Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 86, doi. 10.1002/ajmg.a.36816
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- Publication type:
- Article
Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1036, doi. 10.1002/ajmg.a.35869
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- Publication type:
- Article
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 509, doi. 10.1002/ajmg.a.35298
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- Publication type:
- Article
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2131, doi. 10.1002/ajmg.a.35498
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- Publication type:
- Article
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1462, doi. 10.1002/ajmg.a.35357
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- Publication type:
- Article
Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1158, doi. 10.1002/ajmg.a.35263
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- Publication type:
- Article
A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2970, doi. 10.1002/ajmg.a.34309
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- Publication type:
- Article
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 90, doi. 10.1002/ajmg.a.34371
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- Publication type:
- Article
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
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- Publication type:
- journal article
Correlation of Adiponectin Receptor Expression with Cytokines and Insulin Sensitivity in Growth Hormone (GH)-Treated Children with Prader-Willi Syndrome and in Non-GH-Treated Obese Children.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1371, doi. 10.1210/jc.2009-1489
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- Publication type:
- Article
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.
- Published in:
- Human Genetics, 2011, v. 129, n. 5, p. 497, doi. 10.1007/s00439-011-0947-3
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- Publication type:
- Article
Plasma adiponectin level and sleep structures in children with Prader–Willi syndrome.
- Published in:
- Journal of Sleep Research, 2010, v. 19, n. 1, p. 248, doi. 10.1111/j.1365-2869.2009.00786.x
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- Publication type:
- Article
First Identified Korean Family with Sotos Syndrome Caused by a Novel Intragenic Mutation in NSD1.
- Published in:
- Annals of Clinical & Laboratory Science, 2014, v. 44, n. 2, p. 228
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- Publication type:
- Article
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Published in:
- 2020
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- Publication type:
- journal article
Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation.
- Published in:
- 2023
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- Publication type:
- Case Study
The efficacy of intracerebroventricular idursulfase‐beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1235, doi. 10.1007/s10545-018-0221-0
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- Publication type:
- Article
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1235, doi. 10.1007/s10545-018-0221-0
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- Publication type:
- Article
Updates on Paget's Disease of Bone.
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- Endocrinology & Metabolism, 2022, v. 37, n. 5, p. 732, doi. 10.3803/EnM.2022.1575
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- Publication type:
- Article
Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.
- Published in:
- 2019
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- Publication type:
- corrected article
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.
- Published in:
- 2019
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- Publication type:
- journal article
Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study.
- Published in:
- Yonsei Medical Journal, 2013, v. 54, n. 6, p. 1463, doi. 10.3349/ymj.2013.54.6.1463
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- Publication type:
- Article
Outcome Following Surgical Closure of Patent Ductus Arteriosus in Very Low Birth Weight Infants in Neonatal Intensive Care Unit.
- Published in:
- Yonsei Medical Journal, 2008, v. 49, n. 2, p. 265, doi. 10.3349/ymj.2008.49.2.265
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- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- 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.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from compound heterozygous mutations in the ABCC8 gene.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, p. S23, doi. 10.6065/apem.2244068.034
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- Publication type:
- Article
Genetic obesity: an update with emerging therapeutic approaches.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 3, p. 169, doi. 10.6065/apem.2244188.094
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- Publication type:
- Article
Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 3, p. 154, doi. 10.6065/apem.2018.23.3.154
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- Publication type:
- Article
Newborn Periventricular Nodular Heterotopia with Persistent Feeding Cyanosis and Apneic Spell: A Case Report.
- Published in:
- 2022
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- Publication type:
- Case Study
A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing.
- Published in:
- Neonatal Medicine, 2021, v. 28, n. 2, p. 89, doi. 10.5385/nm.2021.28.2.89
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- Publication type:
- Article
Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants.
- Published in:
- Neonatal Medicine, 2019, v. 26, n. 1, p. 41, doi. 10.5385/nm.2019.26.1.41
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- Publication type:
- Article
Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea.
- Published in:
- Neonatal Medicine, 2016, v. 23, n. 1, p. 59, doi. 10.5385/nm.2016.23.1.59
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- Publication type:
- Article
High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1329, doi. 10.1002/ajmg.a.34013
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- Publication type:
- Article
Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 191, doi. 10.1002/humu.22731
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- Publication type:
- Article
Serum Obestatin/Ghrelin Ratio Is Altered in Patients after Distal Gastrectomy.
- Published in:
- Digestive Surgery, 2009, v. 26, n. 2, p. 143, doi. 10.1159/000207507
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- Publication type:
- Article
Serum levels of FGF21 are reduced and negatively correlated with adiponectin in children with Prader-Willi syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency.
- Published in:
- 2013
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- Publication type:
- Abstract
TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.
- Published in:
- Oncology Reports, 2014, v. 32, n. 4, p. 1347, doi. 10.3892/or.2014.3379
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- Publication type:
- Article