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Journal List > J Genet Med > v.16(1)

Case Report
15 Concurrent SHORT syndrome and 3q duplication syndrome
Alexander M. Boaz, Salvatore A. Grasso, Michael J. DeRogatis, Ellis N. Beesley
J Genet Med. 2019;16(1)15-18   Published online 2019 June 30
 DOI:   SCID: SC000034673
Article       PubReader       ePub-81K       PDF-274K      
Case Report
19 A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)
Bo Mi Park, Young Ok Kim, Myeong-Kyu Kim, Young Jong Woo
J Genet Med. 2019;16(1)19-22   Published online 2019 June 30
 DOI:   SCID: SC000034669
Article       PubReader       ePub-604K       PDF-840K      
Case Report
23 First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnancy loss
Sung Hee Han, Jung Jae Seo, Eun Seol Kim, Jae Song Ryu, Seong Hyeon Hong, Seung Yong Hwang
J Genet Med. 2019;16(1)23-26   Published online 2019 June 30
 DOI:   SCID: SC000034671
Article       PubReader       ePub-1.6M       PDF-387K      
Case Report
27 Smith–Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
Dohwan Lee, Ja-Hyun Jang, Cha Gon Lee
J Genet Med. 2019;16(1)27-30   Published online 2019 June 30
 DOI:   SCID: SC000034670
Article       PubReader       ePub-3.1M       PDF-764K      
Case Report
31 Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report
Wung Joo Song, Yoon Jin Lee, Joon Won Kang, Mea Young Chang, Kyu Sang Song, Dae Young Kang, Sook Za Kim
J Genet Med. 2019;16(1)31-38   Published online 2019 June 30
 DOI:   SCID: SC000034667
Article       PubReader       ePub-8.0M       PDF-1.8M      
Case Report
39 An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome
Go Hun Seo, Arum Oh, Minji Kang, Eun Na Kim, Ja-Hyun Jang, Dae Yeon Kim, Kyung Mo Kim, Han-Wook Yoo, Beom Hee Lee
J Genet Med. 2019;16(1)39-42   Published online 2019 June 30
 DOI:   SCID: SC000034668
Article       PubReader       ePub-2.5M       PDF-790K      
Case Report
43 Ehlers–Danlos syndrome VIII with novel C1R variant accompanying white matter changes
Go Hun Seo, Yoon-Myung Kim, Byeongzu Ghang, Gu-Hwan Kim, Beom Hee Lee
J Genet Med. 2019;16(1)43-47   Published online 2019 June 30
 DOI:   SCID: SC000034672
Article       PubReader       ePub-3.4M       PDF-661K      
Original Article
10 Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities
Hyen Chul Jo, Ji Kwon Park, Jong Chul Baek, Ji Eun Park, Min Young Kang, In Ae Cho
J Genet Med. 2019;16(1)10-14   Published online 2019 June 30
 DOI:   SCID: SC000034665
Article       PubReader       ePub-80K       PDF-276K      
Review Article
1 Noonan syndrome and RASopathies: Clinical features, diagnosis and management
Beom Hee Lee, Han-Wook Yoo
J Genet Med. 2019;16(1)1-9   Published online 2019 June 30
 DOI:   SCID: SC000034666
Article       PubReader       ePub-2.0M       PDF-541K