Hye-Rim Park

发表

Comparative Impact of Pharmacological Therapies on Cluster Headache Management: A Systematic Review and Network Meta-Analysis

J. Choi, Heeyoung Lee, Jackie Han, 2022, Journal of clinical medicine.

Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness

W. Park, B. Choi, Sejoon Lee, 2019, Human mutation.

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

W. Park, B. Choi, D. Oh, 2018, BMC Medical Genetics.

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

W. Park, B. Choi, J. Jang, 2018, Journal of Translational Medicine.

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

B. Choi, D. Oh, C. Kang, 2018, Scientific Reports.

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

Doo-Yi Oh, Eunyoung Yi, Woong-Yang Park, 2017, Scientific Reports.

A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study

W. Park, Seung-ha Oh, D. Oh, 2018, The journal of gene medicine.

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

B. Choi, J. Koo, Seung-ha Oh, 2019, Scientific Reports.

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

B. Choi, J. Jang, Y. Choung, 2020, Genetics in Medicine.

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

B. Choi, J. Jang, Y. Choung, 2020, Genetics in Medicine.

Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.

Seung-ha Oh, Sang-yeon Lee, B. Kim, 2020, Rheumatology.

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation

B. Choi, D. Oh, Kwangsic Joo, 2019, Clinical and experimental otorhinolaryngology.

Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with connexin-mediated passive conductance channels

W. Park, Eunyoung Yi, S. Blanton, 2020, bioRxiv.

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

B. Choi, D. Oh, C. Kang, 2018, Scientific Reports.

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

B. Choi, J. Koo, Seung-ha Oh, 2019, Scientific Reports.

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

W. Park, B. Choi, J. Jang, 2018, Journal of Translational Medicine.

A comparison study of audiological outcome and compliance of bone conduction implantable hearing implants

B. Choi, J. Koo, J. J. Han, 2020, European Archives of Oto-Rhino-Laryngology.

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

W. Park, Eunyoung Yi, S. Blanton, 2021, Proceedings of the National Academy of Sciences.

Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy

W. Park, B. Choi, D. Oh, 2019, Journal of Medical Genetics.