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1 |
14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay
Jae Hyuk Kwon, Young Hwa Song, Jung Min Yoon, Eun Jung Cheon, Kyung Ok Ko, Jae Woo Lim, Hyon J. Kim
Neonatal Med.2020;27(4):207-213. Published online 2020 November 30
DOI: http://dx.doi.org/10.5385/nm.2020.27.4.207
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2 |
Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion
Won-Kyu Choi, Sung-Eun Lim, Gu-Hwan Kim, Beom-Hee Lee, Chang-An Seol, Eul-Ju Seo
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3 |
Usefulness of Chromosomal Microarray in Hematologic Malignancies: A Case of Aggressive NK-cell Leukemia with 1q Abnormality
Yoo Na Chung, Ha-Nui Kim, Se-Ryeon Lee, Hwa Jung Sung, Myung-Hyun Nam
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4 |
Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea
Woori Jang, Yonggoo Kim, Eunhee Han, Joonhong Park, Hyojin Chae, Ahlm Kwon, Hayoung Choi, Jiyeon Kim, Jung-Ok Son, Sang-Jee Lee, Bo Young Hong, Dae-Hyun Jang, Ji Yoon Han, Jung Hyun Lee, So Young Kim, In Goo Lee, In Kyung Sung, Yeonsook Moon, Myungshin Kim, Joo Hyun Park
Ann Lab Med.2019;39(3):299-310. Published online 2019 January 10
DOI: http://dx.doi.org/10.3343/alm.2019.39.3.299
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Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability
Jin Sook Lee, Hee Hwang, Soo Yeon Kim, Ki Joong Kim, Jin Sun Choi, Mi Jung Woo, Young Min Choi, Jong Kwan Jun, Byung Chan Lim, Jong-Hee Chae
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6 |
Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability
Hyo Jeong Kim, Chang Il Park, Jae Woo Lim, Gyung Min Lee, Eunhae Cho, Hyon J. Kim
Yonsei Med J.2018;59(3):431-437. Published online 2018 March 30
DOI: http://dx.doi.org/10.3349/ymj.2018.59.3.431
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7 |
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
Saeam Shin, Nae Yu, Jong Rak Choi, Seri Jeong, Kyung-A Lee
Ann Lab Med.2015;35(5):510-518. Published online 2015 July 15
DOI: http://dx.doi.org/10.3343/alm.2015.35.5.510
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8 |
The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses
Young Bae Sohn, Shin-Young Yim, Eun-Hae Cho, Ok-Hwa Kim
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