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Journal of Genetic Medicine 2019;16:1-47
Review Article
Noonan syndrome and RASopathies: Clinical features, diagnosis and management
Beom Hee Lee, and Han-Wook Yoo
Journal of Genetic Medicine 2019;16:1-9
Original Article
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, and In Ae Cho
Journal of Genetic Medicine 2019;16:10-14
Case Reports
Concurrent SHORT syndrome and 3q duplication syndrome
Alexander M. Boaz, Salvatore A. Grasso, Michael J. DeRogatis, and Ellis N. Beesley
Journal of Genetic Medicine 2019;16:15-18
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, and Young Jong Woo
Journal of Genetic Medicine 2019;16:19-22
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, and Seung Yong Hwang
Journal of Genetic Medicine 2019;16:23-26
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, and Cha Gon Lee
Journal of Genetic Medicine 2019;16:27-30
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, and Sook Za Kim
Journal of Genetic Medicine 2019;16:31-38
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, and Beom Hee Lee
Journal of Genetic Medicine 2019;16:39-42
Ehlers–Danlos syndrome VIII with novel C1R variant accompanying white matter changes
Go Hun Seo, Yoon-Myung Kim, Byeongzu Ghang, Gu-Hwan Kim, and Beom Hee Lee
Journal of Genetic Medicine 2019;16:43-47
The Journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) is a peer reviewed and open-access journal of the Korean Society of Medical Genetics and Genomics, providing up-to-date information relevant to the professions of genetics and medicine....
Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
Bom Yi Lee, Shin Young Lee, Yeon Woo Lee, Shin Young Kim, Jin Woo Kim, Hyun Mee Ryu, Joong Shik Lee, So Yeon Park, and Ju Tae Seo
Received May 23, 2016; Accepted August 16, 2016.
Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
Ji Hye Kim, Gun Ho Lee, Dong Hyun Cha, Eun-Hae Cho, and Yong Wook Jung
Received November 6, 2015; Accepted December 10, 2015.
Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Yeon Jeong Seo, Ko Eun Lee, Jung Min Ko, Gu-Hwan Kim, and Han-Wook Yoo
Received June 1, 2015; Accepted June 10, 2015.