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Journal List > J Genet Med > v.14(1)

Case Report
18 Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report
Ji Hyen Lee, Hae Soon Kim, Gu-Hwan Kim, Han-Wook Yoo
J Genet Med. 2017;14(1)18-22   Published online 2017 June 30
 DOI:   SCID: SC000026204
Article       PubReader       ePub-493K       PDF-1.1M      
Case Report
23 Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Han-Wook Yoo, Beom Hee Lee
J Genet Med. 2017;14(1)23-26   Published online 2017 June 30
 DOI:   SCID: SC000026205
Article       PubReader       ePub-173K       PDF-1.0M      
Case Report
27 A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
Juyeen Lee, Won Duck Kim, Hae Sook Kim, Eun Kyung Lee, Hyung Doo Park
J Genet Med. 2017;14(1)27-30   Published online 2017 June 30
 DOI:   SCID: SC000026202
Article       PubReader       ePub-202K       PDF-388K      
Case Report
31 A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
Dong Hyun Cha, Junnam Lee, Young-Joo Jeon, Yong Wook Jung, Ja-Hyun Jang, Taeheon Lee, Eun Hae Cho
J Genet Med. 2017;14(1)31-33   Published online 2017 June 30
 DOI:   SCID: SC000026203
Article       PubReader       ePub-160K       PDF-1.0M      
Case Report
34 Prenatal diagnosis of 5p deletion syndrome: A case series report
You Jung Han, Dong Wook Kwak
J Genet Med. 2017;14(1)34-37   Published online 2017 June 30
 DOI:   SCID: SC000026208
Article       PubReader       ePub-120K       PDF-486K      
Case Report
38 Prenatal diagnosis of 4p deletion syndrome: A case series report
Dong Wook Kwak, Hyun Kyong Ahn
J Genet Med. 2017;14(1)38-42   Published online 2017 June 30
 DOI:   SCID: SC000026209
Article       PubReader       ePub-81K       PDF-235K      
Case Report
43 Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
Sang Hee Park, Sung Han Shim, Yong Wook Jung, So Hyun Shim, Mi Uk Chin, Ji Eun Park, Sung Mi Bae, Sang Woo Lyu, Dong Hyun Cha
J Genet Med. 2017;14(1)43-47   Published online 2017 June 30
 DOI:   SCID: SC000026207
Article       PubReader       ePub-412K       PDF-649K      
Original Article
1 First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level
Da Eun Lee, Shin Young Kim, Hyun Jin Kim, So Yeon Park, Min Hyoung Kim, You Jung Han, Hyun Mee Ryu
J Genet Med. 2017;14(1)1-7   Published online 2017 June 30
 DOI:   SCID: SC000026201
Article       PubReader       ePub-117K       PDF-341K      
Original Article
8 A genome-wide association study of the association between single nucleotide polymorphisms and brachial-ankle pulse wave velocity in healthy Koreans
EnShi Xu, Jinho Shin, Ji Eun Lim, Mi Kyung Kim, Bo Youl Choi, Min-Ho Shin, Dong Hoon Shin, Young-Hoon Lee, Byung-Yeol Chun, Kyung-Won Hong, Joo-Yeon Hwang
J Genet Med. 2017;14(1)8-17   Published online 2017 June 30
 DOI:   SCID: SC000026206
Article       PubReader       ePub-178K       PDF-372K