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Journal List > J Genet Med > v.11(2)

Case Report
74 A case of Sotos syndrome presented with end-stage renal disease due to the posterior urethral valve
Won Im Cho, Jung Min Ko, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
J Genet Med. 2014;11(2)74-78   Published online 2014 December 31
 DOI:   SCID: SC000012608
Article       PubReader       ePub-259K       PDF-2.2M      
Case Report
79 A case of Mowat–Wilson syndrome with developmental delays and Hirschsprung’s disease
Darae Lee, Ja Hye Kim, Ja Hyang Cho, Moon-Yun Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Han-Wook Yoo
J Genet Med. 2014;11(2)79-82   Published online 2014 December 31
 DOI:   SCID: SC000012613
Article       PubReader       ePub-142K       PDF-377K      
Case Report
83 Marfan syndrome and symptomatic dural ectasia: A case report and literature review
Si Nae Eom, Dong Chan Kim, Kwang Nam Kim, Sung Hye Kim
J Genet Med. 2014;11(2)83-85   Published online 2014 December 31
 DOI:   SCID: SC000012612
Article       PubReader       ePub-318K       PDF-493K      
91 Correction to: Clinical characterization of a Korean case with 3p25 deletion
Hye Jin Lee, Ja Hye Kim, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
J Genet Med. 2014;11(2)91-91   Published online 2014 December 31
 DOI:   SCID: SC000012656
Article       PubReader       ePub-69K       PDF-199K      
Original Article
56 Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II sonography
Ji Eun Park, Ji Kwon Park, In Ae Cho, Jong Chul Baek, Min Young Kang, Jae Ik Lee, Jeong Kyu Shin, Won Jun Choi, Soon Ae Lee, Jong Hak Lee, Won Young Paik
J Genet Med. 2014;11(2)56-62   Published online 2014 December 31
 DOI:   SCID: SC000012611
Article       PubReader       ePub-410K       PDF-2.9M      
Original Article
63 Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
Hyogyeong Kim, Hwan-Sub Lim, Jae-Song Ryu, Hyun-Chul Kim, Sanghoo Lee, Yun-Tae Kim, Young-Jin Kim, Kyoung-Ryul Lee, Hong-Joon Park, Sung-Hee Han
J Genet Med. 2014;11(2)63-68   Published online 2014 December 31
 DOI:   SCID: SC000012609
Article       PubReader       ePub-231K       PDF-866K      
Original Article
69 Distribution of five common subtypes of spinocerebellar ataxia in the Korean population
In-Hee Choi, Gu-Hwan Kim, Beom-Hee Lee, Jin-Ho Choi, Han-Wook Yoo
J Genet Med. 2014;11(2)69-73   Published online 2014 December 31
 DOI:   SCID: SC000012606
Article       PubReader       ePub-167K       PDF-643K      
Review Article
43 Chorionic villus sampling
Soon-Sup Shim
J Genet Med. 2014;11(2)43-48   Published online 2014 December 31
 DOI:   SCID: SC000012607
Article       PubReader       ePub-204K       PDF-577K      
Review Article
49 Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities
Seong-Yeon Hong
J Genet Med. 2014;11(2)49-55   Published online 2014 December 31
 DOI:   SCID: SC000012610
Article       PubReader       ePub-88K       PDF-269K      
Review Article
86 A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea
Moon-Yeon Oh, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Han-Wook Yoo
J Genet Med. 2014;11(2)86-90   Published online 2014 December 31
 DOI:   SCID: SC000012614
Article       PubReader       ePub-151K       PDF-1.2M