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Journal List > J Genet Med > v.13(1)

Case Report
31 Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
Hyewon Woo, Jung Min Ko, Choong Ho Shin, Sei Won Yang
J Genet Med. 2016;13(1)31-35   Published online 2016 June 30
 DOI:   SCID: SC000016228
Article       PubReader       ePub-480K       PDF-2.6M      
Case Report
36 Two cases of TSC2/PKD1 contiguous gene deletion syndrome
Jihye You, Eungu Kang, Yoonmyung Kim, Beom Hee Lee, Tae-Sung Ko, Gu-Hwan Kim, Jin-Ho Choi, Han-Wook Yoo
J Genet Med. 2016;13(1)36-40   Published online 2016 June 30
 DOI:   SCID: SC000016226
Article       PubReader       ePub-594K       PDF-2.4M      
Case Report
41 A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome
Min Ji Park, Dong Hun Lee, Young Lim Shin, Yong Hee Hong
J Genet Med. 2016;13(1)41-45   Published online 2016 June 30
 DOI:   SCID: SC000016235
Article       PubReader       ePub-1.1M       PDF-1.1M      
Case Report
46 A diagnosis of hypochondroplasia by next generation sequencing
Seok Min Ahn, Young Han Kim, Jun Woo Baek, Eun Ju Bae, Hong Jin Lee
J Genet Med. 2016;13(1)46-50   Published online 2016 June 30
 DOI:   SCID: SC000016232
Article       PubReader       ePub-1.0M       PDF-7.1M      
Case Report
51 A family with dynamin 2-related centronuclear myopathy without ocular involvement
Jin-Sung Park, Dae-Seong Kim, Jin-Hong Shin
J Genet Med. 2016;13(1)51-54   Published online 2016 June 30
 DOI:   SCID: SC000016233
Article       PubReader       ePub-749K       PDF-17.0M      
Case Report
55 A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
Yoo Min Kim, Min Kyu Kim
J Genet Med. 2016;13(1)55-58   Published online 2016 June 30
 DOI:   SCID: SC000016234
Article       PubReader       ePub-417K       PDF-5.2M      
Original Article
14 Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women
Kyung Min Kang, Se Ra Sung, Ji Eun Park, Yun Jeong Shin, Sang Hee Park, Mi Uk Chin, Sang Woo Lyu, Dong Hyun Cha, Sung Han Shim
J Genet Med. 2016;13(1)14-19   Published online 2016 June 30
 DOI:   SCID: SC000016231
Article       PubReader       ePub-244K       PDF-3.5M      
Original Article
20 Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
Jung Yoon Choi, Hyung Ho Yun, Cha Gon Lee
J Genet Med. 2016;13(1)20-25   Published online 2016 June 30
 DOI:   SCID: SC000016230
Article       PubReader       ePub-479K       PDF-8.4M      
Original Article
26 Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Khaimah, United Arab Emirates
Rasha Aziz Attia Salama, Abeer Kamal Saleh
J Genet Med. 2016;13(1)26-30   Published online 2016 June 30
 DOI:   SCID: SC000016229
Article       PubReader       ePub-82K       PDF-718K      
Review Article
1 DNA damage to human genetic disorders with neurodevelopmental defects
Youngsoo Lee, Inseo Choi, Jusik Kim, and Keeeun Kim
J Genet Med. 2016;13(1)1-13   Published online 2016 June 30
 DOI:   SCID: SC000016227
Article       PubReader       ePub-333K       PDF-4.1M