A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the gene

by Jung Sook Ha, Yeo Hyang Kim
Published 2011-06-01

The Effect of <i>NUDT15</i>, <i>TPMT</i>, <i>APEX1</i>, and <i>ITPA</i> Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia

by Jae Min Lee, Ye Jee Shim, Do-Hoon Kim, Nani Jung, Jung-Sook Ha
Published 2021-03-01

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

by Eun-Woo Park, Ye-Jee Shim, Jung-Sook Ha, Jin-Hong Shin, Soyoung Lee, Jang-Hyuk Cho
Published 2021-05-01

The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing

by Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Published 2018-12-01

A Population-Based Analysis of <i>BRCA1</i>/<i>2</i> Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study

by Kyung-Sun Park, Woochang Lee, Moon-Woo Seong, Sun-Young Kong, Kyung-A Lee, Jung-Sook Ha, Eun-Hae Cho, Sung-Hee Han, Inho Park, Jong-Won Kim
Published 2021-05-01

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology O...

by Eu Jeen Yang, Ye Jee Shim, Heung Sik Kim, Young Tak Lim, Ho Joon Im, Kyung-Nam Koh, Hyery Kim, Jin Kyung Suh, Eun Sil Park, Na Hee Lee, Young Bae Choi, Jeong Ok Hah, Jae Min Lee, Jung Woo Han, Jae Hee Lee, Young-Ho Lee, Hye Lim Jung, Jung-Sook Ha, Chang-Seok Ki, on behalf of the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group (KPHOG)
Published 2021-05-01