journal_list | How to participate | E-utilities

Journal List > J Genet Med > v.12(2)

Case Report
118 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, Yong Wook Jung
J Genet Med. 2015;12(2)118-122   Published online 2015 December 31
 DOI:   SCID: SC000013333
Article       PubReader       ePub-219K       PDF-9.8M      
Case Report
123 Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
In Ae Cho, Ji Kwon Park, Jong Chul Baek, A Na Ha, Min Young Kang, Jae Ik Lee, Ji Eun Park, Jeong Kyu Shin, Won Jun Choi, Soon Ae Lee, Jong Hak Lee, Won Young Paik
J Genet Med. 2015;12(2)123-127   Published online 2015 December 31
 DOI:   SCID: SC000013334
Article       PubReader       ePub-783K       PDF-6.7M      
Original Article
100 Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
Sung-Hee Han, Young-Ho Yang, Jae-Song Ryu, Young-Jin Kim, Kyoung-Ryul Lee
J Genet Med. 2015;12(2)100-108   Published online 2015 December 31
 DOI:   SCID: SC000013331
Article       PubReader       ePub-382K       PDF-13.2M      
Original Article
109 Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing
Hyun Dae Hong, Eunja Kim, Soo Hyun Nam, Da Hye Yoo, Bum Chun Suh, Byung-Ok Choi, Ki Wha Chung
J Genet Med. 2015;12(2)109-117   Published online 2015 December 31
 DOI:   SCID: SC000013332
Article       PubReader       ePub-316K       PDF-5.5M      
Original Article
79 Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination: Clinical laboratory improvement amendments-certified noninvasive prenatal test
Min-Jeong Kim, Chang Hyuk Kwon, Dong-In Kim, Hee Su Im, Sungil Park, Ji Ho Kim, Jin-Sik Bae, Myunghee Lee, Min Seob Lee
J Genet Med. 2015;12(2)79-84   Published online 2015 December 31
 DOI:   SCID: SC000013326
Article       PubReader       ePub-252K       PDF-797K      
Original Article
85 Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea
Sung-Hee Han, Young-Ho Yang, Jae-Song Ryu, Myung-Soo Kang, Young-Jin Kim, Kyoung-Ryul Lee
J Genet Med. 2015;12(2)85-91   Published online 2015 December 31
 DOI:   SCID: SC000013329
Article       PubReader       ePub-189K       PDF-1.1M      
Original Article
92 Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery
Shin Ok Jeong, You Jung Han, Si Won Lee, Dong Wook Kwak, Jin Hoon Chung, Hyun Kyong Ahn, June Seek Choi, Jung Yeol Han, Moon Young Kim, So Yeon Park, Hyun Mee Ryu, Min Hyoung Kim
J Genet Med. 2015;12(2)92-95   Published online 2015 December 31
 DOI:   SCID: SC000013327
Article       PubReader       ePub-123K       PDF-736K      
Original Article
96 Evaluating the results of the Momguard noninvasive prenatal test
Hae-Jin Hu, Young-Jun Kwon, Mijin Oh, Jihun Kim, Dae-Yeon Cho, Dong-Hee Seo
J Genet Med. 2015;12(2)96-99   Published online 2015 December 31
 DOI:   SCID: SC000013330
Article       PubReader       ePub-80K       PDF-701K      
Review Article
61 Whole genome sequencing based noninvasive prenatal test
Eun-Hae Cho
J Genet Med. 2015;12(2)61-65   Published online 2015 December 31
 DOI:   SCID: SC000013324
Article       PubReader       ePub-82K       PDF-701K      
Review Article
66 Advantages of the single nucleotide polymorphism-based noninvasive prenatal test
Kunwoo Kim
J Genet Med. 2015;12(2)66-71   Published online 2015 December 31
 DOI:   SCID: SC000013325
Article       PubReader       ePub-246K       PDF-1.2M      
Review Article
72 Application of digital polymerase chain reaction technology for noninvasive prenatal test
Seung Yong Lee, Seung Yong Hwang
J Genet Med. 2015;12(2)72-78   Published online 2015 December 31
 DOI:   SCID: SC000013328
Article       PubReader       ePub-283K       PDF-1.5M