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| 1 |
Identification of Potocki-Lupski syndrome in patients with developmental delay and growth failure
Jun, Sujin;Lee, Yena;Oh, Arum;Kim, Gu-Hwan;Seo, Eulju;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.49-54,
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| 2 |
Clinical and genetic characteristics of Korean patients with IARS2-related disorders
Lee, Jin Sook;Kim, Man Jin;Kim, Soo Yeon;Lim, Byung Chan;Kim, Ki Joong;Choi, Murim;Seong, Moon-Woo;Chae, Jong-Hee;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.55-61,
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| 3 |
A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
Kim, Jihye;Ko, Jung Min;Shin, Seung Han;Kim, Ee-Kyung;Kim, Han-Suk;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.62-66,
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| 4 |
A familial case of limb-girdle muscular dystrophy with CAV3 mutation
Lee, Seungbok;Jang, Sesong;Shim, Youngkyu;Kim, Woo Joong;Kim, Soo Yeon;Cho, Anna;Kim, Hunmin;Kim, Jong-Il;Lim, Byung Chan;Hwang, Hee;Choi, Jieun;Kim, Ki Joong;Chae, Jong Hee;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.67-70,
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| 5 |
Periventricular nodular heterotopia in a child with a mild Mowat-Wilson phenotype caused by a novel missense mutation of ZEB2
Kim, Young Ok;Lee, Yun Young;Kim, Myeong-Kyu;Woo, Young Jong;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.71-75,
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| 6 |
Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review
Park, Ji Eun;Park, Ji Kwon;Kang, Min Young;Jo, Hyen Chul;Cho, In Ae;Baek, Jong Chul;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.76-80,
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| 7 |
A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
Kim, Soo Kyoung;Jung, So Yoon;Bae, Seong Phil;Kim, Jieun;Lee, Jeongho;Lee, Dong Hwan;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.81-84,
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| 8 |
A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family
Kim, Yoo-Mi;Lim, Han Hyuk;Gang, Mi Hyeon;Lee, Yong Wook;Kim, Sook Za;Kim, Gu-Hwan;Yoo, Han-Wook;Ko, Jung-Min;Chang, Meayoung;
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Korean Society of Medical Genetics and Genomics
, v.16, no.2, pp.85-89,
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