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Publications by Byung Yoon Choi

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

Journal of Translational Medicine
BiochemistryMedicineGeneticsMolecular Biology
2015English

One-Step Noninvasive Prenatal Testing (NIPT) for Autosomal Recessive Homozygous Point Mutations Using Digital PCR

Scientific Reports
Multidisciplinary
2018English

Development of Novel Noninvasive Prenatal Testing Protocol for Whole Autosomal Recessive Disease Using Picodroplet Digital PCR

Scientific Reports
Multidisciplinary
2016English

Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

PLoS ONE
Multidisciplinary
2014English

Risk Factors for Failure in the Newborn Hearing Screen Test in Very Preterm Twins

Pediatrics and Neonatology
Child HealthPediatricsPerinatology
2018English

Craniometaphyseal Dysplasia

Acta Oto-Laryngologica
MedicineOtorhinolaryngology
2005English

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