My Items

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Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.

2016 Dec

Oh JY, Do HJ, Lee S, Jang JH, Cho EH, Jang DH.

A novel case of extreme thrombocytosis in acute myeloid leukemia associated with isochromosome 17q and copy neutral loss of heterozygosity.

2015. May

You E, Cho SY, Yang JJ, Lee HJ, Lee WI, Lee J, Cho KS, Cho EH, Park TS.

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

2015. May

Jang MA, Lee T, Lee J, Cho EH, Ki CS.

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.

2015. Feb

Kim HJ, Cho E, Park JB, Im WY, Kim HJ.

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

2015. Feb

Sohn YB, Yim SY, Cho EH, Kim OH.

Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report.

2015. Dec

Kim JH, Lee GH, Cha DH, Cho EH, Jung YW.

Whole genome sequencing based noninvasive prenatal test.

2015. Dec

Cho EH.

Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22.

2014. Jul

Cho EH, Park JB, Kim JK.

Frequency of DMPK mutation carriers in Korean women of childbearing age.

2014 Oct

Jang JH, Lee JW, Cho EH, Lee EH, Kim JW, Ki CS.

Large Cell Calcifying Sertoli Cell Tumor of the Testis: A Case Study and Review of the Literature.

2014. Feb

Song DH, Jeong SM, Park JT, Yun GW, Kim BK, Lee JS.

Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3.

2011. Jan

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH.

Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion.

2010. Feb

Mun SJ, Cho EH, Chey MJ, Shim GH, Shin BM, Lee RK, Ko JK, Yoo SJ.