Works matching AU Kim, Yoo-Mi
Results: 25
Psychometric properties of the Korean version of the Copenhagen Burnout Inventory in Korean homecare workers for older adults.
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- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0221323
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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
Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.
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- Journal of Clinical Medicine, 2023, v. 12, n. 20, p. 6508, doi. 10.3390/jcm12206508
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- Article
Efficacy and safety of topical corticosteroid treatment under occlusion for severe alopecia areata in children: a single-centre retrospective analysis.
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- Clinical & Experimental Dermatology, 2024, v. 49, n. 10, p. 1125, doi. 10.1093/ced/llae085
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- Article
Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010–2011.
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- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 553, doi. 10.1515/jpem-2023-0520
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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
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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- 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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- 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
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
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- 2013
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- 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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- 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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- 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
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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- 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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- 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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- Article
Pancreatic involvement in patients with inborn errors of metabolism.
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- 2021
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- Publication type:
- journal 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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- journal article
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
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- 2020
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- Publication type:
- journal article
Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.
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- Pediatric Pulmonology, 2017, v. 52, n. 2, p. E4, doi. 10.1002/ppul.23533
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- Article
Prevalence of asthma in preterm and associated risk factors based on prescription data from the Korean National Health Insurance database.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31558-z
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- Article
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
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- Metabolic Brain Disease, 2015, v. 30, n. 1, p. 75, doi. 10.1007/s11011-014-9569-5
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- Article
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant.
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- Metabolic Brain Disease, 2013, v. 28, n. 3, p. 519, doi. 10.1007/s11011-013-9398-y
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- Publication type:
- Article