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| 1 |
DNA damage to human genetic disorders with neurodevelopmental defects
Lee, Youngsoo;Choi, Inseo;Kim, Jusik;Kim, Keeeun;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.1-13,
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| 2 |
Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women
Kang, Kyung Min;Sung, Se Ra;Park, Ji Eun;Shin, Yun Jeong;Park, Sang Hee;Chin, Mi Uk;Lyu, Sang Woo;Cha, Dong Hyun;Shim, Sung Han;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.14-19,
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| 3 |
Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA ) in South Korea
Choi, Jung Yoon;Yun, Hyung Ho;Lee, Cha Gon;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.20-25,
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| 4 |
Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Khaimah, United Arab Emirates
Salama, Rasha Aziz Attia;Saleh, Abeer Kamal;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.26-30,
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| 5 |
Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
Woo, Hyewon;Ko, Jung Min;Shin, Choong Ho;Yang, Sei Won;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.31-35,
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| 6 |
Two cases of TSC2/PKD1 contiguous gene deletion syndrome
You, Jihye;Kang, Eungu;Kim, Yoonmyung;Lee, Beom Hee;Ko, Tae-Sung;Kim, Gu-Hwan;Choi, Jin-Ho;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.36-40,
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| 7 |
A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome
Park, Min Ji;Lee, Dong Hun;Shin, Young Lim;Hong, Yong Hee;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.41-45,
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| 8 |
A diagnosis of hypochondroplasia by next generation sequencing
Ahn, Seok Min;Kim, Young Han;Baek, Jun Woo;Bae, Eun Ju;Lee, Hong Jin;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.46-50,
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| 9 |
A family with dynamin 2-related centronuclear myopathy without ocular involvement
Park, Jin-Sung;Kim, Dae-Seong;Shin, Jin-Hong;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.51-54,
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| 10 |
A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
Kim, Yoo Min;Kim, Min Kyu;
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Korean Society of Medical Genetics and Genomics
, v.13, no.1, pp.55-58,
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