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| 1 |
Insight into the pathogensis of polycystic ovarian syndrome
Jung, Yong Wook;Lee, Gun Ho;Han, You Jung;Cha, Dong Hyun;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.1-10,
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| 2 |
Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases
Hong, So Yeon;Shim, So Hyun;Park, Hee Jin;Shim, Sung Shin;Kim, Ji Youn;Cho, Yeon Kyung;Kim, Soo Hyun;Cha, Dong Hyun;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.11-15,
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| 3 |
Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?
Lee, Seung Mi;Jun, Jong Kwan;Kim, Hyun-Young;Shin, Seung Han;Park, Jeong Woo;Kim, Min Kyoung;Park, Chan-Wook;Park, Joong Shin;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.16-20,
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| 4 |
Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype
Lee, Dongsook;Go, Sanghee;Na, Sohyun;Park, Surim;Ma, Jinyoung;Hwang, Doyeong;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.21-26,
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| 5 |
Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea
Kang, Min Ji;Seong, Moon-Woo;Cho, Sung Im;Park, Joong Shin;Jun, Jong Kwan;Park, Sung Sup;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.27-33,
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| 6 |
Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
Lee, Woong-Woo;Choi, Jong-Moon;Lee, Cha Gon;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.34-38,
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| 7 |
Clinical features of Senior-Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man
Chiu, Harold Henrison C.;Sucaldito, Ma. Sergia Fatima P.;Maceda, Ebner Bon G.;Montemayor, Jan Andre S.;Tamondong-Lachica, Diana R.;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.39-42,
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| 8 |
Shprintzen-Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy
Jeon, Min Jin;Park, Seul Gi;Kim, Man Jin;Lim, Byung Chan;Kim, Ki Joong;Chae, Jong Hee;Kim, Soo Yeon;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.43-46,
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| 9 |
A case of 45,X/47,XXX mosaic Turner syndrome: Clinical manifestations and effect of growth hormone treatment
Yoo, Su Hyun;Ahn, Moon Bae;Kim, Shin Hee;Cho, Won Kyoung;Jung, Min Ho;Suh, Byung Kyu;Cho, Kyoungsoon;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.47-50,
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| 10 |
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
Kwon, Won Kyung;Kim, Suhee;Jang, Ja-Hyun;Kim, Jong-Won;
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Korean Society of Medical Genetics and Genomics
, v.17, no.1, pp.51-54,
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