Sang-heun Lee

Daegu, Republic of Korea

Last Updated: 09/26/2026

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Found 10 publications

Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

Journal: Annals of clinical and laboratory science

Published: November 02, 2014

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.

Journal: Open biology

Published: August 01, 2014

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

Journal: European journal of human genetics : EJHG

Published: October 27, 2013

Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.

Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.

Journal: Gene

Published: June 12, 2013

Comparison of auditory responses determined by acoustic stimulation and by mechanical round window stimulation at equivalent stapes velocities.

Comparison of auditory responses determined by acoustic stimulation and by mechanical round window stimulation at equivalent stapes velocities.

Journal: Hearing research

Published: May 09, 2013

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population.

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population.

Journal: PloS one

Published: October 17, 2012

Perspective of functional magnetic resonance imaging in middle ear research.

Perspective of functional magnetic resonance imaging in middle ear research.

Journal: Hearing research

Published: September 06, 2012

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.

Journal: Gene

Published: June 21, 2012

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Journal: Orphanet journal of rare diseases

Published: March 30, 2012

Voxel-wise analysis of diffusion tensor imaging for clinical outcome of cochlear implantation: retrospective study.

Voxel-wise analysis of diffusion tensor imaging for clinical outcome of cochlear implantation: retrospective study.

Journal: Clinical and experimental otorhinolaryngology

Published: November 30, 2011

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Last Updated: 09/26/2026