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Journal List > J Genet Med > v.15(1)

 
 
Case Report
13 A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
Da Hyun Kim, Sun Hee Heo, Go Hun Seo, Arum Oh, Taeho Kim, Gu-Hwan Kim, Young Hee Yoon, Han-Wook Yoo, Beom Hee Lee
J Genet Med. 2018;15(1)13-16   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.13   SCID: SC000031902
Article       PubReader       ePub-3.3M       PDF-2.3M      
Case Report
17 Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
Sang-Yeun Cho, Ja Hye Kim
J Genet Med. 2018;15(1)17-19   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.17   SCID: SC000031903
Article       PubReader       ePub-386K       PDF-965K      
Case Report
20 A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report
Youn Young Choi, Min Hyung Woo, Gi Beom Kim, Mi Kyoung Song, Sang Yoon Lee, Eun Jung Bae, Murim Choi, Young-Sook Kim
J Genet Med. 2018;15(1)20-23   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.20   SCID: SC000031900
Article       PubReader       ePub-4.7M       PDF-2.6M      
Case Report
24 A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
Sungwon Hong, Cha Gon Lee
J Genet Med. 2018;15(1)24-27   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.24   SCID: SC000031896
Article       PubReader       ePub-2.2M       PDF-77.5M      
Case Report
28 A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
Soonhak Kwon, Jin-Sung Park, Jae Hun Jung, Su Kyeong Hwang, Yeo Hyang Kim, Yun Jeong Lee
J Genet Med. 2018;15(1)28-33   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.28   SCID: SC000031897
Article       PubReader       ePub-4.1M       PDF-3.2M      
Case Report
34 1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
Yoon Hwa Kim, Ju Seok Yang, Young Joo Lee, Mi Hye Bae, Kyung Hee Park, Dong Hyung Lee, Kyung-Hwa Shin, Seung Chul Kim
J Genet Med. 2018;15(1)34-37   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.34   SCID: SC000031899
Article       PubReader       ePub-1016K       PDF-1002K      
Case Report
38 Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
Go Hun Seo, Yoon-Myung Kim, Gu-Hwan Kim, Eul-Ju Seo, Jin Ho Choi, Beom Hee Lee, Han-Wook Yoo
J Genet Med. 2018;15(1)38-42   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.38   SCID: SC000031895
Article       PubReader       ePub-4.3M       PDF-1.2M      
Case Report
43 Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review
Ji Eun Park, Ji Kwon Park, In Ae Cho, Jong Chul Baek
J Genet Med. 2018;15(1)43-47   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.43   SCID: SC000031901
Article       PubReader       ePub-3.6M       PDF-12.2M      
Original Article
8 Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
Eui Sun Seong, Hye Jin Youn, Min Kyung Park, Hye Yeon Boo, Bom Yi Lee, Hyun Mee Ryu, You Jung Han
J Genet Med. 2018;15(1)8-12   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.8   SCID: SC000031898
Article       PubReader       ePub-201K       PDF-317K      
Review Article
1 Clinical significance of sonographic soft markers: A review
Mi Sun Kim, Sukho Kang, Hee Young Cho
J Genet Med. 2018;15(1)1-7   Published online 2018 June 30
 DOI: https://doi.org/10.5734/JGM.2018.15.1.1   SCID: SC000031894
Article       PubReader       ePub-85K       PDF-305K