| Review Article |
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Insight into the pathogensis of polycystic ovarian syndrome
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| Yong Wook Jung, Gun Ho Lee, You Jung Han, and Dong Hyun Cha |
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Journal of Genetic Medicine 2020;17:1-10 |
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| Original Articles |
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Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases
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| So Yeon Hong, So Hyun Shim, Hee Jin Park, Sung Shin Shim, Ji Youn Kim, Yeon Kyung Cho, Soo Hyun Kim and Dong Hyun Cha |
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Journal of Genetic Medicine 2020;17:11-15 |
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Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?
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| Seung Mi Lee, Jong Kwan Jun, Hyun-Young Kim, Seung Han Shin, Jeong Woo Park, Min Kyoung Kim, Chan-Wook Park, and Joong Shin Park |
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Journal of Genetic Medicine 2020;17:16-20 |
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Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype
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| Dongsook Lee, Sanghee Go, Sohyun Na, Surim Park, Jinyoung Ma, and Doyeong Hwang |
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Journal of Genetic Medicine 2020;17:21-26 |
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Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea
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| Min Ji Kang, Moon-Woo Seong, Sung Im Cho, Joong Shin Park, Jong Kwan Jun, and Sung Sup Park |
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Journal of Genetic Medicine 2020;17:27-33 |
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| Case Reports |
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Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
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| Woong-Woo Lee, Jong-Moon Choi, and Cha Gon Lee |
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Journal of Genetic Medicine 2020;17:34-38 |
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Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man
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| Harold Henrison C. Chiu, Ma. Sergia Fatima P. Sucaldito, Ebner Bon G. Maceda, Jan Andre S. Montemayor, Diana R. Tamondong-Lachica |
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Journal of Genetic Medicine 2020;17:39-42 |
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Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy
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| Min Jin Jeon, Seul Gi Park, Man Jin Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, and Soo Yeon Kim |
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Journal of Genetic Medicine 2020;17:43-46 |
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A case of 45,X/47,XXX mosaic Turner syndrome: Clinical manifestations and effect of growth hormone treatment
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| Su Hyun Yoo, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Min Ho Jung, Byung Kyu Suh, and Kyoungsoon Cho |
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Journal of Genetic Medicine 2020;17:47-50 |
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Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease
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| Won Kyung Kwon, Suhee Kim, Ja-Hyun Jang, and Jong-Won Kim |
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Journal of Genetic Medicine 2020;17:51-54 |
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Journal of Genetic Medicine 2020;17:1-54
