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Publications by Youngbin Choi

An Atypical Case of Noonan Syndrome With KRAS Mutation Diagnosed by Targeted Exome Sequencing

Annals of Pediatric Endocrinology and Metabolism

English

Related publications

Atypical Case of Wolfram Syndrome Revealed Through Targeted Exome Sequencing in a Patient With Suspected Mitochondrial Disease

BMC Medical Genetics

English

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology

English

First Case of Congenital Myeloproliferative Disorder in a Newborn Diagnosed With Noonan Syndrome

Journal of Neonatal Biology

English

Noonan Syndrome: Comparing Mutation-Positive With Mutation-Negative Dutch Patients

Molecular Syndromology

English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Multidisciplinary

English

Carbamoyl Phosphate Synthetase 1 Deficiency Diagnosed by Whole Exome Sequencing

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

English

Sensitive Sequencing Method for KRAS Mutation Detection by Pyrosequencing

Journal of Molecular Diagnostics

Forensic Medicine

Molecular Medicine

English

A Case of Noonan Syndrome With the SHOC2 Mutation Complicated by Dilation of a Single Left Coronary Artery

Pediatric Cardiology and Cardiac Surgery

English

A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome

Case Reports in Neurological Medicine

English