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| 1 |
Cumulus and granulosa cell biomarkers: a good predictor for successful oocyte and embryo developmental competence in human in vitro fertilization
Yu, Eun Jeong;Lyu, Sang Woo;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.1-7,
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| 2 |
Treatment strategies targeting specific genetic etiologies in epilepsy
Kim, Hyo Jeong;Kang, Hoon-Chul;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.8-15,
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| 3 |
GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
Cho, Sung Yoon;Jin, Dong-Kyu;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.16-23,
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| 4 |
Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith-Wiedemann and Silver-Russell syndromes
Shin, Young-Lim;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.24-30,
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| 5 |
Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital
Park, Hee Sue;Kim, Aryun;Shin, Kyeong Seob;Son, Bo Ra;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.31-37,
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| 6 |
Psychological effects and risk perception after genetic counseling
Shin, Sunghwan;Ryu, Mi Ra;Kwon, Won Kyung;Kim, Suhee;Jang, Ja-Hyun;Kim, Jong-Won;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.38-43,
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| 7 |
Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh
Rahman, Muhammad Mizanur;Fatema, Kanij;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.44-47,
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| 8 |
The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation
Jang, Jin A;Sohn, Young Bae;Lee, Jang Hoon;Park, Moon Sung;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.48-54,
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| 9 |
West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopathy
Choi, Seul A;Kim, Young Ok;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.55-59,
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| 10 |
Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Bae, Soyoung;Yang, Aram;Ahn, Ja-Hye;Kim, Jinsup;Park, Hyun Kyung;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.60-63,
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| 11 |
A case of TBC1D32-related ciliopathy with novel compound heterozygous variants
Ahn, Ji Ye;Kim, Soo Yeon;Lim, Byung Chan;Kim, Ki Joong;Chae, Jong Hee;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.64-69,
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| 12 |
Cohen-Gibson syndrome in a family: The first familial case report
Kang, Yeo Jin;Kim, Young Ok;
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Korean Society of Medical Genetics and Genomics
, v.18, no.1, pp.70-74,
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