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Scientific Reports
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November 11, 2018
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
Jinsei Jung, Hyun Been Choi, Young Ik Koh, et al.
Human Mutation
|
December 18, 2018
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators
Dong Hoon Shin, Jinsei Jung, Young Ik Koh, et al.
Hearing Research
|
March 30, 2021
Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant
Gina Na, Hye Ji Choi, Sun Young Joo, et al.
Experimental & Molecular Medicine
|
August 23, 2019
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment
Jinsei Jung, Haiyue Lin, Young Ik Koh, et al.
Human Genetics
|
September 16, 2021
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study
Kyung Seok Oh, Daniel Walls, Sun Young Joo, et al.
Scientific Reports
|
July 10, 2024
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type
Katharina Lemberg, Nils D Mertens, Kirollos Yousef, et al.
Autophagy
|
March 7, 2022
<i>OSBPL2</i> mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, et al.
Journal of the American Society of Nephrology : JASN
|
May 9, 2020
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment
Eugen Widmeier, Seyoung Yu, Anish Nag, et al.
Journal of Nephrology
|
August 8, 2024
Correction to: Phenotypic quantification of Nphs1‑deficient mice
Ronen Schneider, Bshara Mansour, Caroline M Kolvenbach, et al.
American Journal of Physiology. Renal Physiology
|
March 14, 2024
Quantitative phenotyping of <i>Nphs1</i> knockout mice as a prerequisite for gene replacement studies
Florian Buerger, Lea M Merz, Ken Saida, et al.
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Search research articles
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Showing results (11-20 of 26) with videos related to
Sort By:
Page
of 3
Scientific Reports
|
November 11, 2018
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
Jinsei Jung, Hyun Been Choi, Young Ik Koh, et al.
Human Mutation
|
December 18, 2018
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators
Dong Hoon Shin, Jinsei Jung, Young Ik Koh, et al.
Hearing Research
|
March 30, 2021
Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant
Gina Na, Hye Ji Choi, Sun Young Joo, et al.
Experimental & Molecular Medicine
|
August 23, 2019
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment
Jinsei Jung, Haiyue Lin, Young Ik Koh, et al.
Human Genetics
|
September 16, 2021
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study
Kyung Seok Oh, Daniel Walls, Sun Young Joo, et al.
Scientific Reports
|
July 10, 2024
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type
Katharina Lemberg, Nils D Mertens, Kirollos Yousef, et al.
Autophagy
|
March 7, 2022
<i>OSBPL2</i> mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, et al.
Journal of the American Society of Nephrology : JASN
|
May 9, 2020
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment
Eugen Widmeier, Seyoung Yu, Anish Nag, et al.
Journal of Nephrology
|
August 8, 2024
Correction to: Phenotypic quantification of Nphs1‑deficient mice
Ronen Schneider, Bshara Mansour, Caroline M Kolvenbach, et al.
American Journal of Physiology. Renal Physiology
|
March 14, 2024
Quantitative phenotyping of <i>Nphs1</i> knockout mice as a prerequisite for gene replacement studies
Florian Buerger, Lea M Merz, Ken Saida, et al.
Page
of 3