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1 Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases
Mi-Ae Jang
Ann Lab Med.2023;43(3):223-224.   Published online 2022 December 22     DOI: http://dx.doi.org/10.3343/alm.2023.43.3.223
      
2 Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases
Jung-Man Namgoong, Shin Hwang, Hyunhee Kwon, Suhyeon Ha, Kyung Mo Kim, Seak Hee Oh, Seung-Mo Hong
Ann Hepatobiliary Pancreat Surg.2022;26(1):69-75.   Published online 2022 February 28     DOI: http://dx.doi.org/10.14701/ahbps.21-114
      
3 Case of a Male Newborn with Incontinentia Pigmenti Initially Misdiagnosed as a Recurrent Skin Infection
Sang Ho Park, Kyung-Hwa Nam, Yo Han Ho
Neonatal Med.2020;27(3):141-146.   Published online 2020 August 31     DOI: http://dx.doi.org/10.5385/nm.2020.27.3.141
      
4 Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim
Endocrinol Metab.2020;35(1):188-191.   Published online 2020 March 19     DOI: http://dx.doi.org/10.3803/EnM.2020.35.1.188
   
5 Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives
Haleh Ayatollahi, Seyedeh Fatemeh Hosseini, Morteza Hemmat
Healthc Inform Res.2019;25(4):289-296.   Published online 2019 October 31     DOI: http://dx.doi.org/10.4258/hir.2019.25.4.289
      
6 Genetic Diseases Associated with Diabetes Mellitus
Junghyun Noh
J Korean Diabetes.2017;18(3):169-176.   Published online 2017 January 10     DOI: http://dx.doi.org/10.4093/jkd.2017.18.3.169
   
7 X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
Hyun-Jung Cho, Mee-Yong Shin, Kang-Mo Ahn, Sang Il Lee, Hee-Jin Kim, Chang-Seok Ki, Jong-Won Kim
J Korean Med Sci.2006;21(5):790-793.   Published online 2006 October 31     DOI: http://dx.doi.org/10.3346/jkms.2006.21.5.790
      
8 Molecular Analysis of X-linked Chronic Granulomatous Disease in Five Unrelated Korean Patients
Heung-Bum Oh, Joon Seok Park, Woochang Lee, Soo Jin Yoo, Jin Hyuk Yang, Sun-Young Oh
J Korean Med Sci.2004;19(2):218-222.   Published online 2004 April 30     DOI: http://dx.doi.org/10.3346/jkms.2004.19.2.218
      
9 X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with γc Chain Gene Mutation and Subsequent Genetic Counseling
Eun-Kyeong Jo, Satoru Kumaki, Du Wei, Shigeru Tsuchiya, Hirokazu Kanegane, Chang-Hwa Song, Ha Young Noh, Young Ok Kim, So Yeon Kim, Hae Yul Chung, Yoon Ha Kim, Hoon Kook
J Korean Med Sci.2004;19(1):123-126.   Published online 2004 February 28     DOI: http://dx.doi.org/10.3346/jkms.2004.19.1.123
      

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