• 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

• Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

• Seong Eui-Sun

• Youn Hye-Jin, Park Min-Kyung, Boo Hye-Yeon, Lee Bom-Yi, Ryu Hyun-Mee, Han You-Jung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 8 ~ 12

• Clinical significance of sonographic soft markers: A review

• Kim Mi-Sun

• Kang Suk-Ho, Cho Hee-Young

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2018  Volume.15  No.1 1 ~ 7