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| 1 |
Type 1 diabetes genetic susceptibility markers and their functional implications
Park, Yongsoo;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.1-10,
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| 2 |
Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome
Lee, Jae-Ho;Kim, Dae-Kwang;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.11-15,
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| 3 |
Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus
Park, Sang Hee;Shim, Sung Han;Jung, Yong Wook;Kim, Da Hee;Kang, Su Jin;Park, Sun Ok;Cha, Dong Hyun;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.16-21,
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| 4 |
Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation
Ko, Jung Min;Shin, Choong Ho;Yang, Sei Won;Cheong, Hae Il;Song, Junghan;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.22-26,
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| 5 |
A familial case with brachydactyly type C with a GDF5 mutation
Yeh, Hye Ryun;Lee, Beom Hee;Kim, Ja Hye;Cho, Ja Hyang;Kim, Gu-Hwan;Kim, Jae-Min;Choi, In-Hee;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.27-30,
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| 6 |
Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10 : the first case identified in Korea
Yoon, Sung Chul;Lee, Hye Jin;Ko, Jung Min;Kang, Hee Gyung;Cheong, Hae Il;Yu, Hyeong Gon;Kim, Jae Hyung;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.31-35,
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| 7 |
Clinical characterization of a Korean case with 3p25 deletion
Lee, Hye Jin;Kim, Ja Hye;Cho, Ja Hyang;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.36-39,
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| 8 |
A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation
Park, Sangwook;Sohn, Young Bae;Chung, In-Soon;Hong, Ji-Hee;Jung, Eun-Jung;Jeong, Seon-Yong;Jin, Hyun-Seok;
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Korean Society of Medical Genetics and Genomics
, v.11, no.1, pp.40-42,
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