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| 1 |
Noonan syndrome and RASopathies: Clinical features, diagnosis and management
Lee, Beom Hee;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.1-9,
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| 2 |
Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities
Jo, Hyen Chul;Park, Ji Kwon;Baek, Jong Chul;Park, Ji Eun;Kang, Min Young;Cho, In Ae;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.10-14,
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| 3 |
Concurrent SHORT syndrome and 3q duplication syndrome
Boaz, Alexander M.;Grasso, Salvatore A.;DeRogatis, Michael J.;Beesley, Ellis N.;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.15-18,
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| 4 |
A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)
Park, Bo Mi;Kim, Young Ok;Kim, Myeong-Kyu;Woo, Young Jong;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.19-22,
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| 5 |
First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnancy loss
Han, Sung Hee;Seo, Jung Jae;Kim, Eun Seol;Ryu, Jae Song;Hong, Seong Hyeon;Hwang, Seung Yong;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.23-26,
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| 6 |
Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
Lee, Dohwan;Jang, Ja-Hyun;Lee, Cha Gon;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.27-30,
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| 7 |
Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report
Song, Wung Joo;Lee, Yoon Jin;Kang, Joon Won;Chang, Mea Young;Song, Kyu Sang;Kang, Dae Young;Kim, Sook Za;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.31-38,
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| 8 |
An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome
Seo, Go Hun;Oh, Arum;Kang, Minji;Kim, Eun Na;Jang, Ja-Hyun;Kim, Dae Yeon;Kim, Kyung Mo;Yoo, Han-Wook;Lee, Beom Hee;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.39-42,
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| 9 |
Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes
Seo, Go Hun;Kim, Yoon-Myung;Ghang, Byeongzu;Kim, Gu-Hwan;Lee, Beom Hee;
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Korean Society of Medical Genetics and Genomics
, v.16, no.1, pp.43-47,
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