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Publications by Jinsun Yoon

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

Scientific Reports

Multidisciplinary

English

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

Scientific Reports

Multidisciplinary

English

Related publications

EP07.08: Clinical Experience With Non-Invasive Prenatal Testing (NIPT) for Rare Autosomal Trisomies

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Acta Ophthalmologica

English

Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome

English

Presymptomatic Detection of Metastatic Breast Cancer Using Non-Invasive Prenatal Testing (NIPT)

Forensic Medicine

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

English

Noninvasive Prenatal Diagnosis of Hemophilia by Microfluidics Digital PCR Analysis of Maternal Plasma DNA

English