journal_list | How to participate | E-utilities

Journal List > J Genet Med > v.15(2)

Case Report
102 Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
Yoo-Mi Kim, Chong Kun Cheon, Han Hyuk Lim, Han-Wook Yoo
J Genet Med. 2018;15(2)102-106   Published online 2018 December 31
 DOI:   SCID: SC000033711
Article       PubReader       ePub-3.9M       PDF-1.1M      
Case Report
107 X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
Jong-Mok Lee, Jin-Hong Shin
J Genet Med. 2018;15(2)107-109   Published online 2018 December 31
 DOI:   SCID: SC000033709
Article       PubReader       ePub-708K       PDF-3.3M       Supplementary-material
Case Report
110 Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
Min Jeong Jang, Cha Gon Lee, Hyun Jung Kim
J Genet Med. 2018;15(2)110-114   Published online 2018 December 31
 DOI:   SCID: SC000033714
Article       PubReader       ePub-3.3M       PDF-20.6M      
Case Report
115 Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
Ju Kyung Hyun, Yu Jin Jung
J Genet Med. 2018;15(2)115-119   Published online 2018 December 31
 DOI:   SCID: SC000033716
Article       PubReader       ePub-4.3M       PDF-1.3M      
Case Report
87 Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Inkyu Gill, Ja Hye Kim, Jin-Hwa Moon, Yong Joo Kim, Nam Su Kim
J Genet Med. 2018;15(2)87-91   Published online 2018 December 31
 DOI:   SCID: SC000033708
Article       PubReader       ePub-1.3M       PDF-4.0M      
Case Report
92 First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus
Kang-in Kim, Hanbyul Lee, So Yoon Jung, Dong Hwan Lee, Jeongho Lee
J Genet Med. 2018;15(2)92-96   Published online 2018 December 31
 DOI:   SCID: SC000033715
Article       PubReader       ePub-2.4M       PDF-1.2M      
Case Report
97 A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
Jin-Mo Park, Yun Jeong Lee, Jin-Sung Park
J Genet Med. 2018;15(2)97-101   Published online 2018 December 31
 DOI:   SCID: SC000033706
Article       PubReader       ePub-7.1M       PDF-1.8M      
Original Article
64 Genetic overgrowth syndrome: A single center’s experience
Chong Kun Cheon, Yoo-Mi Kim, Ju Young Yoon, Young A Kim
J Genet Med. 2018;15(2)64-71   Published online 2018 December 31
 DOI:   SCID: SC000033710
Article       PubReader       ePub-2.2M       PDF-1.0M      
Original Article
72 Korean physicians’ attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA
Soo Hyun Kim, Kun Woo Kim, You Jung Han, Seung Mi Lee, Mi-Young Lee, Jae-Yoon Shim, Geum Joon Cho, Joon Ho Lee, Soo-young Oh, Han-Sung Kwon, Dong Hyun Cha, Hyun Mee Ryu
J Genet Med. 2018;15(2)72-78   Published online 2018 December 31
 DOI:   SCID: SC000033712
Article       PubReader       ePub-700K       PDF-5.1M       Supplementary-material
Original Article
79 The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
Hyeyeon Boo, So Yun Kim, Eui Sun Seoung, Min Hyung Kim, Moon Young Kim, Hyun Mee Ryu, You Jung Han, Jin Hoon Chung
J Genet Med. 2018;15(2)79-86   Published online 2018 December 31
 DOI:   SCID: SC000033707
Article       PubReader       ePub-1.5M       PDF-744K      
Review Article
49 Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
So Hyun Shim, Dong Hyun Cha
J Genet Med. 2018;15(2)49-54   Published online 2018 December 31
 DOI:   SCID: SC000033705
Article       PubReader       ePub-80K       PDF-213K      
Review Article
55 Integrated diagnostic approach of pediatric neuromuscular disorders
Ha Neul Lee, Young-Mock Lee
J Genet Med. 2018;15(2)55-63   Published online 2018 December 31
 DOI:   SCID: SC000033713
Article       PubReader       ePub-88K       PDF-272K