Works matching AU Cheon, Chong-Kun
Results: 23
NANS‐CDG: Expanding clinical insights with a novel patient with novel variants.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63721
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- 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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- Article
Ease of Use, Preference, and Safety of the Recombinant Human Growth Hormone Disposable Pen Compared with the Reusable Device: A Multicenter, Single-Arm, Open-Label, Switch-Over, Prospective, Phase IV Trial.
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- Patient Preference & Adherence, 2019, v. 13, p. 2195, doi. 10.2147/PPA.S229536
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- Article
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 12, p. 1539, doi. 10.1515/jpem-2020-0336
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- Article
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
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- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00464-x
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- 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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- Article
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25
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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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- Article
Genotype and clinical outcomes in children with congenital adrenal hyperplasia.
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- Pediatrics International, 2021, v. 63, n. 6, p. 658, doi. 10.1111/ped.14478
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- Article
Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.
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- Pediatrics International, 2015, v. 57, n. 5, p. 870, doi. 10.1111/ped.12634
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- Article
Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-88362-0
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- Article
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review.
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- Ophthalmic Genetics, 2021, v. 42, n. 2, p. 101, doi. 10.1080/13816810.2020.1861308
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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
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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- Article
A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.
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- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00491-7
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- 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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- 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
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
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- 2020
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- Publication type:
- journal article
Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7209, doi. 10.3390/ijms21197209
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- Article
Comparison of growth hormone therapy response according to the presence of growth hormone deficiency in children born small for gestational age with short stature in Korea: a retrospective cohort study.
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- BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-024-05339-0
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- Article
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
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- 2021
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- Publication type:
- journal article
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66750-y
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- Article
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
- Published in:
- 2009
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- Publication type:
- journal article