- Clinical characteristics of CHARGE syndrome
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Ahn BS, Oh SY
- KMID: 1043970
- Korean J Ophthalmol.
- 1998 Dec;12(2):130-134.
- doi: 10.3341/kjo.1998.12.2.130
CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development... -
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- Structural Brain Alterations in Individuals at Ultra-high Risk for Psychosis: A Review of Magnetic Resonance Imaging Studies and Future Directions
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Jung WH, Jang JH, Byun MS, An SK, Kwon JS
- KMID: 1792891
- J Korean Med Sci.
- 2010 Dec;25(12):1700-1709.
- doi: 10.3346/jkms.2010.25.12.1700
Individuals at ultra-high-risk (UHR) for psychosis have become a major focus for research designed to explore markers for early detection of and clinical intervention in schizophrenia. In particular, structural magnetic... -
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- Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
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Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
- KMID: 1096661
- Korean J Lab Med.
- 2011 Jan;31(1):49-53.
- doi: 10.3343/kjlm.2011.31.1.49
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by... -
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