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| 1 |
Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
Shim, So Hyun;Cha, Dong Hyun;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.49-54,
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| 2 |
Integrated diagnostic approach of pediatric neuromuscular disorders
Lee, Ha Neul;Lee, Young-Mock;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.55-63,
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| 3 |
Genetic overgrowth syndrome: A single center's experience
Cheon, Chong Kun;Kim, Yoo-Mi;Yoon, Ju Young;Kim, Young A;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.64-71,
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| 4 |
Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA
Kim, Soo Hyun;Kim, Kun Woo;Han, You Jung;Lee, Seung Mi;Lee, Mi-Young;Shim, Jae-Yoon;Cho, Geum Joon;Lee, Joon Ho;Oh, Soo-young;Kwon, Han-Sung;Cha, Dong Hyun;Ryu, Hyun Mee;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.72-78,
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| 5 |
The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
Boo, Hyeyeon;Kim, So Yun;Seoung, Eui Sun;Kim, Min Hyung;Kim, Moon Young;Ryu, Hyun Mee;Han, You Jung;Chung, Jin Hoon;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.79-86,
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| 6 |
Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Gill, Inkyu;Kim, Ja Hye;Moon, Jin-Hwa;Kim, Yong Joo;Kim, Nam Su;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.87-91,
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| 7 |
First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus
Kim, Kang-in;Lee, Hanbyul;Jung, So Yoon;Lee, Dong Hwan;Lee, Jeongho;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.92-96,
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| 8 |
A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
Park, Jin-Mo;Lee, Yun Jeong;Park, Jin-Sung;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.97-101,
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| 9 |
Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
Kim, Yoo-Mi;Cheon, Chong Kun;Lim, Han Hyuk;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.102-106,
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| 10 |
X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
Lee, Jong-Mok;Shin, Jin-Hong;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.107-109,
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| 11 |
Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
Jang, Min Jeong;Lee, Cha Gon;Kim, Hyun Jung;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.110-114,
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| 12 |
Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
Hyun, Ju Kyung;Jung, Yu Jin;
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Korean Society of Medical Genetics and Genomics
, v.15, no.2, pp.115-119,
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