Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.
- Published in:
- Cerebellum, 2019, v. 18, n. 3, p. 659, doi. 10.1007/s12311-019-1005-2
- By:
- Publication type:
- Article
Works by Kim, Ah-Reum
Results: 37
1
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10(E)-Pentadecenoic Acid Inhibits Melanogenesis Partly Through Suppressing the Intracellular MITF/Tyrosinase Axis.
- Published in:
- Antioxidants, 2024, v. 13, n. 12, p. 1547, doi. 10.3390/antiox13121547
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- Publication type:
- Article
3
Genomic Analysis of Korean Patient With Microcephaly.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.543528
- By:
- Publication type:
- Article
4
Plant callus-derived shikimic acid regenerates human skin through converting human dermal fibroblasts into multipotent skin-derived precursor cells.
- Published in:
- Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02409-3
- By:
- Publication type:
- Article
5
The beneficial effects of ethanolic extract of Sargassum serratifolium in DNCB-induced mouse model of atopic dermatitis.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62828-z
- By:
- Publication type:
- Article
6
Docosatrienoic Acid Inhibits Melanogenesis Partly through Suppressing the Intracellular MITF/Tyrosinase Axis.
- Published in:
- Pharmaceuticals (14248247), 2024, v. 17, n. 9, p. 1198, doi. 10.3390/ph17091198
- By:
- Publication type:
- Article
7
Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2013, v. 270, n. 12, p. 3057, doi. 10.1007/s00405-013-2386-3
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- Publication type:
- Article
8
Isolation and identification of Malassezia species from Chinese and Korean patients with seborrheic dermatitis and in vitro studies on their bioactivity on sebaceous lipids and IL-8 production.
- Published in:
- Mycoses, 2016, v. 59, n. 5, p. 274, doi. 10.1111/myc.12456
- By:
- Publication type:
- Article
9
A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
- Published in:
- Neonatology (16617800), 2020, v. 117, n. 3, p. 374, doi. 10.1159/000506165
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- Publication type:
- Article
10
Gender differences in Korean adolescents who died by suicide based on teacher reports.
- Published in:
- Child & Adolescent Psychiatry & Mental Health, 2019, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13034-019-0274-3
- By:
- Publication type:
- Article
11
Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0161756
- By:
- Publication type:
- Article
12
Chemical Property Evaluation and Tensile Strength Correlation of XLPE Insulators Based on Accelerated Thermal Aging.
- Published in:
- Applied Sciences (2076-3417), 2023, v. 13, n. 18, p. 10516, doi. 10.3390/app131810516
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- Publication type:
- Article
13
Efficiency of Exploration of Molecular Genetic Etiology for Cochlear Implantees and Its Implication.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2014, v. 151, p. P204, doi. 10.1177/0194599814541629a212
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- Publication type:
- Article
14
Novel TECTA Mutations Identified in Stable Sensorineural Hearing Loss and Their Clinical Implications.
- Published in:
- Audiology & Neurotology, 2015, v. 20, n. 1, p. 17, doi. 10.1159/000366514
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- Publication type:
- Article
15
Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication.
- Published in:
- Audiology & Neurotology, 2014, v. 19, n. 5, p. 319, doi. 10.1159/000366190
- By:
- Publication type:
- Article
16
Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
17
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.
- Published in:
- 2014
- By:
- Publication type:
- journal article
18
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
- Published in:
- Journal of Gene Medicine, 2018, v. 20, n. 6, p. 1, doi. 10.1002/jgm.3019
- By:
- Publication type:
- Article
19
Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
- Published in:
- Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2950
- By:
- Publication type:
- Article
20
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
- Published in:
- Journal of Gene Medicine, 2016, v. 18, n. 11/12, p. 353, doi. 10.1002/jgm.2935
- By:
- Publication type:
- Article
21
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38245-4
- By:
- Publication type:
- Article
22
Clinical characteristics of patients with narrow bony cochlear nerve canal: is the bilateral case just a duplicate of the unilateral case?
- Published in:
- 2013
- By:
- Publication type:
- journal article
23
Clinical characteristics of patients with narrow bony cochlear nerve canal Clinical characteristics of patients with narrow bony cochlear nerve canal: Is the bilateral case just a duplicate of the unilateral case?
- Published in:
- Laryngoscope, 2013, v. 123, n. 8, p. 1996, doi. 10.1002/lary.23998
- By:
- Publication type:
- Article
24
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
- Published in:
- 2018
- By:
- Publication type:
- journal article
25
Facile Cu(I) Loading for Adsorptive C<sub>3</sub>H<sub>6</sub>/C<sub>3</sub>H<sub>8</sub> Separation Through Double Cu(II) Salts Incorporation Within Pores With Unsaturated Fe(II) Sites.
- Published in:
- Bulletin of the Korean Chemical Society, 2021, v. 42, n. 3, p. 471, doi. 10.1002/bkcs.12225
- By:
- Publication type:
- Article
26
Metabolomic analysis of amino acids and lipids in human hair altered by dyeing, perming and bleaching.
- Published in:
- Experimental Dermatology, 2016, v. 25, n. 9, p. 729, doi. 10.1111/exd.13025
- By:
- Publication type:
- Article
27
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0125416
- By:
- Publication type:
- Article
28
Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116931
- By:
- Publication type:
- Article
29
Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene <i>TECTA</i>.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097040
- By:
- Publication type:
- Article
30
Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0068692
- By:
- Publication type:
- Article
31
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
32
Transformation of the Concept of Kyoyang (Self-Cultivation) in Korean Print Media, 1896–1936.
- Published in:
- Contributions to the History of Concepts (Berghahn Books), 2022, v. 17, n. 1, p. 23, doi. 10.3167/choc.2022.170102
- By:
- Publication type:
- Article
33
Fast Cyclohexane Oxidation Under Mild Reaction Conditions Through a Controlled Creation of Redox‐Active Fe(II/III) Sites in a Metal−Organic Framework.
- Published in:
- ChemCatChem, 2019, v. 11, n. 22, p. 5650, doi. 10.1002/cctc.201901050
- By:
- Publication type:
- Article
34
The Beneficial Roles of Seaweed in Atopic Dermatitis.
- Published in:
- Marine Drugs, 2024, v. 22, n. 12, p. 566, doi. 10.3390/md22120566
- By:
- Publication type:
- Article
35
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 913, doi. 10.1002/humu.23984
- By:
- Publication type:
- Article
36
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 525, doi. 10.1002/humu.23719
- By:
- Publication type:
- Article
37
Destabilization and Mislocalization of POU3 F4 by C-Terminal Frameshift Truncation and Extension Mutation.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 309, doi. 10.1002/humu.22232
- By:
- Publication type:
- Article