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Journal List > J Genet Med > v.13(2)

Case Report
105 Myotonic dystrophy diagnosed during the perinatal period: A case series report
You Jung Shin, Do Jin Kim, So Yeon Park, Jin Hoon Chung, Yeon Kyung Lee, Hyun Mee Ryu
J Genet Med. 2016;13(2)105-110   Published online 2016 December 31
 DOI:   SCID: SC000022125
Article       PubReader       ePub-153K       PDF-663K      
Case Report
95 Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
Dongsook Lee, Heeju Park, Sanha Kwak, Soomin Lee, Sanghee Go, Sohyun Park, Sukyung Jo, Kichul Kim, Seunggwan Lee, Doyeong Hwang
J Genet Med. 2016;13(2)95-98   Published online 2016 December 31
 DOI:   SCID: SC000022119
Article       PubReader       ePub-436K       PDF-3.3M      
Case Report
99 Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
Jin Hee Jang, Jung Min Ko, Sei Won Yang, Jong Hee Chae, Eun Jung Bae
J Genet Med. 2016;13(2)99-104   Published online 2016 December 31
 DOI:   SCID: SC000022124
Article       PubReader       ePub-530K       PDF-39.8M      
Original Article
72 Substrate reduction therapy in three patients with Gaucher disease
Soo Hyun Kim, Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, Beom Hee Lee
J Genet Med. 2016;13(2)72-77   Published online 2016 December 31
 DOI:   SCID: SC000022120
Article       PubReader       ePub-810K       PDF-28.9M      
Original Article
78 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, Ju Tae Seo
J Genet Med. 2016;13(2)78-88   Published online 2016 December 31
 DOI:   SCID: SC000022122
Article       PubReader       ePub-182K       PDF-575K      
Original Article
89 The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia
David Kwang Yong Choe, Jeong Won Oh, Jong Kwan Jun, Young Min Choi
J Genet Med. 2016;13(2)89-94   Published online 2016 December 31
 DOI:   SCID: SC000022123
Article       PubReader       ePub-171K       PDF-1.7M      
Review Article
59 Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
Young Bae Sohn, Han-Wook Yoo
J Genet Med. 2016;13(2)59-64   Published online 2016 December 31
 DOI:   SCID: SC000022118
Article       PubReader       ePub-152K       PDF-784K      
Review Article
65 An overview of current knowledge about cell-free RNA in amniotic fluid
Yong Wook Jung, Yun Jeong Shin, Sung Han Shim, Dong Hyun Cha
J Genet Med. 2016;13(2)65-71   Published online 2016 December 31
 DOI:   SCID: SC000022121
Article       PubReader       ePub-83K       PDF-239K