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| 1 |
First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level
Lee, Da Eun;Kim, Shin Young;Kim, Hyun Jin;Park, So Yeon;Kim, Min Hyoung;Han, You Jung;Ryu, Hyun Mee;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.1-7,
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| 2 |
A genome-wide association study of the association between single nucleotide polymorphisms and brachial-ankle pulse wave velocity in healthy Koreans
Xu, EnShi;Shin, Jinho;Lim, Ji Eun;Kim, Mi Kyung;Choi, Bo Youl;Shin, Min-Ho;Shin, Dong Hoon;Lee, Young-Hoon;Chun, Byung-Yeol;Hong, Kyung-Won;Hwang, Joo-Yeon;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.8-17,
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| 3 |
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report
Lee, Ji Hyen;Kim, Hae Soon;Kim, Gu-Hwan;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.18-22,
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| 4 |
Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
Kim, Yoon-Myung;Seo, Go Hun;Kim, Gu-Hwan;Yoo, Han-Wook;Lee, Beom Hee;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.23-26,
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| 5 |
A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
Lee, Juyeen;Kim, Won Duck;Kim, Hae Sook;Lee, Eun Kyung;Park, Hyung Doo;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.27-30,
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| 6 |
A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
Cha, Dong Hyun;Lee, Junnam;Jeon, Young-Joo;Jung, Yong Wook;Jang, Ja-Hyun;Lee, Taeheon;Cho, Eun Hae;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.31-33,
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| 7 |
Prenatal diagnosis of 5p deletion syndrome: A case series report
Han, You Jung;Kwak, Dong Wook;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.34-37,
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| 8 |
Prenatal diagnosis of 4p deletion syndrome: A case series report
Kwak, Dong Wook;Ahn, Hyun Kyong;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.38-42,
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| 9 |
Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
Park, Sang Hee;Shim, Sung Han;Jung, Yong Wook;Shim, So Hyun;Chin, Mi Uk;Park, Ji Eun;Bae, Sung Mi;Lyu, Sang Woo;Cha, Dong Hyun;
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Korean Society of Medical Genetics and Genomics
, v.14, no.1, pp.43-47,
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