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| 1 |
Chronic Granulomatous Disease on Jeju Island, Korea
Cho, Moonjae;Shin, Kyung-Sue;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.1-6,
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| 2 |
Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation
Lee, Young-Ki;Lee, Dong Hun;Noh, Jung-Woo;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.7-12,
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| 3 |
Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation
Yoon, Chang Ki;Yu, Hyeong Gon;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.13-19,
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| 4 |
Genetics of Mitochondrial Myopathies
Shin, Jin-Hong;Kim, Dae-Seong;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.20-26,
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| 5 |
Bioinformatics Approaches for the Identification and Annotation of RNA Editing Sites
Lee, Soo Youn;Kim, Ju Han;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.27-32,
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| 6 |
Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1
Yum, Mi-Sun;Lee, Beom Hee;Kim, Gu-Hwan;Lee, Jin-Joo;Choi, Seung Hoon;Lee, Joo Yeon;Kim, Jae-Min;Kim, Yoo-Mi;Ko, Tae-Sung;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.33-37,
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| 7 |
Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases
Kwak, Dong Wook;Kim, Hyun Jin;Park, So Yeon;Ahn, Hyun Suk;Chae, Yong Hwa;Kim, Moon Young;Lee, Young Ho;Ryu, Hyun Mee;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.38-42,
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| 8 |
An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
Shin, Soon-Jung;Kim, Ja Hye;Kim, Yoo-Mi;Kim, Gu-Hwan;Lee, Beom Hee;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.43-46,
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| 9 |
Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report
Lee, Yun-Jeong;Yum, Mi-Sun;Kim, Eun-Hee;Choi, Hae-Won;Lee, Beom Hee;Yoo, Han-Wook;Ko, Tae-Sung;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.47-51,
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| 10 |
Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
Lee, Cha Gon;Yun, Jun-No;Park, Sang-Jin;Sohn, Young Bae;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.52-56,
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| 11 |
Acromegaloid Facial Appearance Syndrome - A New Case in India
Rai, Arpita;Sattur, Atul P.;Naikmasur, Venkatesh G.;
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Korean Society of Medical Genetics and Genomics
, v.10, no.1, pp.57-61,
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