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About Synapse
Overview
Disclaimer
Journal list
Advanced
Contact us
Search Guidelines
How to Participate
How to add a journal to Synapse
How to submit a file after validating the JATS XML file
File Validation tools
KAMJE Databases
KoreaMed
KoMCI
Korean Medical Journal Information
KAMJE
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6 results
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1
The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
Min-Seong Baek, Se Hoon Kim, Young-Mock Lee
Yonsei Med J.
2019;60(1):98-105. Published online 2018 December 13 DOI:
http://dx.doi.org/10.3349/ymj.2019.60.1.98
2
Pre-implantation genetic diagnosis and pre-implantation genetic screening: two years experience at a single center
Se Yeon Won, Hannah Kim, Woo Sik Lee, Ji Won Kim, Sung Han Shim
Obstet Gynecol Sci.
2018;61(1):95-101. Published online 2018 January 5 DOI:
http://dx.doi.org/10.5468/ogs.2018.61.1.95
3
Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease
Jung Ah Kim, Hyun Jin Kim, Jin Min Cho, Seak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Kyung Mo Kim, Han-Wook Yoo
Pediatr Gastroenterol Hepatol Nutr.
2015;18(3):187-192. Published online 2015 September 25 DOI:
http://dx.doi.org/10.5223/pghn.2015.18.3.187
4
Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis
Jeong Kee Seo
Pediatr Gastroenterol Hepatol Nutr.
2012;15(4):197-209. Published online 2012 December 31 DOI:
http://dx.doi.org/10.5223/pghn.2012.15.4.197
5
Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization : A Case Report
Hyoung-Song Lee, Jin Hyun Jun, Hye Won Choi, Chun Kyu Lim, Han-Wook Yoo, Mi Kyoung Koong, Inn Soo Kang
J Korean Med Sci.
2007;22(3):572-576. Published online 2007 June 30 DOI:
http://dx.doi.org/10.3346/jkms.2007.22.3.572
6
The effect of genetic counseling on performance of prenatal cytogenetic diagnosis
Sei Kwang Kim, In Kyu Kim, Chang Kyu Kim, Young Ho Yang, Tchan Kyu Park, Kir Young Kim
Yonsei Med J.
1989;30(1):16-22. Published online 2002 February 20 DOI:
http://dx.doi.org/10.3349/ymj.1989.30.1.16
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