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| 1 |
The role of de novo variants in complex and rare diseases pathogenesis
Rahman, Mahir;Lee, Woohyung;Choi, Murim;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.1-5,
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| 2 |
Diagnostic approach for genetic causes of intellectual disability
Yim, Shin-Young;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.6-11,
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| 3 |
Molecular genetic decoding of malformations of cortical development
Lim, Jae Seok;Lee, Jeong Ho;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.12-18,
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| 4 |
Recent advances in genetic studies of stuttering
Kang, Changsoo;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.19-24,
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| 5 |
Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1
Choi, Yu-Ri;Jung, Sung-Chul;Shin, Jinhee;Yoo, So Young;Lee, Ji-Su;Joo, Jaesoon;Lee, Jinho;Hong, Young Bin;Choi, Byung-Ok;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.25-30,
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| 6 |
Neurogenic potentials of human amniotic fluid-derived stem cells according to expression levels of stem cell markers and ingredients of induction medium
Lim, Eun Hye;Cho, Jung Ah;Park, Ho;Song, Tae Jong;Kim, Woo Young;Kim, Kye Hyun;Lee, Kyo Won;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.31-37,
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| 7 |
Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17
Kim, Gu-Hwan;Chung, Sun Ju;Ryu, Ho-Sung;Kim, Jaemin;Lee, Jin-Joo;Choi, Seoung Hoon;Lee, Juyeon;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.38-43,
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| 8 |
Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Seo, Yeon Jeong;Lee, Ko Eun;Ko, Jung Min;Kim, Gu-Hwan;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.44-48,
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| 9 |
An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea
Lee, Bom-Yi;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Choi, Eun-Young;Kim, Moon-Young;Ryu, Hyun-Mee;Park, So-Yeon;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.49-56,
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| 10 |
A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Son, Yu Yun;Lee, Byeonghyeon;Suh, Chae-Ri;Nam, Hyo-Kyoung;Lee, Jung Hwa;Hong, Young Sook;Lee, Joo Won;
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Korean Society of Medical Genetics and Genomics
, v.12, no.1, pp.57-60,
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