• Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

• Hyun Ju-Kyung

• Jung Yu-Jin

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 115 ~ 119

• Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated ...

• Jang Min-Jeong

• Lee Cha-Gon, Kim Hyun-Jung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 110 ~ 114

• X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene

• Lee Jong-Mok

• Shin Jin-Hong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 107 ~ 109

• Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short ...

• Kim Yoo-Mi

• Cheon Chong-Kun, Lim Han-Hyuk, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 102 ~ 106

• A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome t...

• Park Jin-Mo

• Lee Yun-Jeong, Park Jin-Sung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 97 ~ 101

• First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chron...

• Kim Kang-In

• Lee Han-Byul, Jung So-Yoon, Lee Dong-Hwan, Lee Jeong-Ho

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 92 ~ 96

• Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome seque...

• Gill In-Kyu

• Kim Ja-Hye, Moon Jin-Hwa, Kim Yong-Joo, Kim Nam-Su

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 87 ~ 91

• The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound fin...

• Boo Hye-Yeon

• Kim So-Yun, Seoung Eui-Sun, Kim Moon-Young, Ryu Hyun-Mee, Han You-Jung, Chung Jin-Hoon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 79 ~ 86

• Korean physicians¡¯ attitudes toward the prenatal screening for fetal aneuploidy and implementation ...

• Kim Soo-Hyun

• Kim Kun-Woo, Han You-Jung, Lee Seung-Mi, Lee Mi-Young, Shim Jae-Yoon, Cho Geum-Joon, Lee J...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 72 ~ 78

• Genetic overgrowth syndrome: A single center¡¯s experience

• Cheon Chong-Kun

• Kim Yoo-Mi, Yoon Ju-Young, Kim Young-A

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 64 ~ 71

• Integrated diagnostic approach of pediatric neuromuscular disorders

• Lee Ha-Neul

• Lee Young-Mock

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 55 ~ 63

• Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

• Shim So-Hyun

• Cha Dong-Hyun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.2 49 ~ 54

• Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review

• Park JI-Eun

• Park Ji-Kwon, Cho In-Ae, Baek Jong-Chul

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 43 ~ 47

• Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chr...

• Seo Go-Hun

• Kim Yoon-Myung, Kim Gu-Hwan, Seo Eul-Ju, Choi Jin-Ho, Lee Beom-Hee, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 38 ~ 42

• 1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

• Kim Yoon-Hwa

• Yang Ju-Seok, Lee Young-Joo, Bae Mi-Hye, Park Kyung-Hee, Lee Dong-Hyung, Shin Kyung-Hwa, K...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 34 ~ 37

• A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

• Kwon Soon-Hak

• Park Jin-Sung, Jung Jae-Hun, Hwang Su-Kyeong, Kim Yeo-Hyang, Lee Yun-Jeong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 28 ~ 33

• A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified ...

• Hong Sung-Won

• Lee Cha-Gon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 24 ~ 27

• A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular...

• Choi Youn-Young

• Woo Min-Hyung, Kim Gi-Beom, Song Mi-Kyoung, Lee Sang-Yoon, Bae Eun-Jung, Choi Mu-Rim, Kim ...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 20 ~ 23

• Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

• Cho Sang-Yeun

• Kim Ja-Hye

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 17 ~ 19

• A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

• Kim Da-Hyun

• Heo Sun-Hee, Seo Go-Hun, Oh A-Rum, Kim Tae-Ho, Kim Gu-Hwan, Yoon Young-Hee, Yoo Han-Wook,&...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 13 ~ 16