|
| 1 |
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome
Boram Kim, Yongsook Park, Sung Im Cho, Man Jin Kim, Jong-Hee Chae, Ji Yeon Kim, Moon-Woo Seong, Sung Sup Park
Ann Lab Med.2022;42(1):79-88. Published online 2022 January 1
DOI: http://dx.doi.org/10.3343/alm.2022.42.1.79
|
|
| 2 |
Genomic alterations in chronic lymphocytic leukemia and their correlation with clinico-hematological parameters and disease progression
Vishrut K. Srinivasan, Shano Naseem, Neelam Varma, Deepesh P. Lad, Pankaj Malhotra
Blood Res.2020;55(3):131-138. Published online 2020 September 30
DOI: http://dx.doi.org/10.5045/br.2020.2020080
|
|
| 3 |
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population
Jong Eun Park, Sun Ae Yun, Eun Youn Roh, Jong Hyun Yoon, Sue Shin, Chang-Seok Ki
Ann Lab Med.2020;40(4):326-330. Published online 2020 February 17
DOI: http://dx.doi.org/10.3343/alm.2020.40.4.326
|
|
| 4 |
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
Hee-Jung Kim, Soon Ki Kim, Ki-Young Yoo, Ki-O Lee, Jae Won Yun, Sun-Hee Kim, Hee-Jin Kim, Sang Kyu Park
Ann Lab Med.2019;39(6):545-551. Published online 2019 June 25
DOI: http://dx.doi.org/10.3343/alm.2019.39.6.545
|
|
| 5 |
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease
Jung Ok Shim, Hye Ran Yang, Jin Soo Moon, Ju Young Chang, Jae Sung Ko, Sung Sup Park, Jeong Kee Seo
|
|
| 6 |
Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population
Banseok Kim, Seung-Tae Lee, Sinyoung Kim, Jong Rak Choi, Hyun Ok Kim
Ann Lab Med.2018;38(1):32-38. Published online 2017 October 23
DOI: http://dx.doi.org/10.3343/alm.2018.38.1.32
|
|
| 7 |
Clinical and Genetic Characterization of Female Dystrophinopathy
Seung Ha Lee, Jung Hwan Lee, Kyung-A Lee, Young-Chul Choi
|
|
| 8 |
Novel Non-contiguous Duplications in the DMD Gene in Five Patients with Duchenne Muscular Dystrophy
John Hoon Rim, Sun-Mi Cho, Nae Yu, Kyung-A Lee
|
|
| 9 |
Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
Ji Yeon Sung, Eun Jung Bae, Seungman Park, So Yeon Kim, Ye Jin Hyun, Sung Sup Park, Moon-Woo Seong
Ann Lab Med.2014;34(5):395-398. Published online 2014 August 21
DOI: http://dx.doi.org/10.3343/alm.2014.34.5.395
|
|
| 10 |
Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy
Tae-Jin Song, Kyung-A Lee, Seong-Woong Kang, Hanna Cho, Young-Chul Choi
Yonsei Med J.2011;52(1):192-195. Published online 2010 November 30
DOI: http://dx.doi.org/10.3349/ymj.2011.52.1.192
|
|
| 11 |
Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification
Seoyoung Yoon, Chang Hoon Lee, Kyung-A Lee
|
|
| 12 |
Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene
Younhee Park, Juwon Kim, Jong Rak Choi, Jaewoo Song, Jong Shin Chung, Kyung-A Lee
|
|
