• Importance of family segregation in the American College of Medical Genetics and Genomics and Associ...

• Kwon Won-Kyung

• Kim Su-Hee, Jang Ja-Hyun, Kim Jong-Won

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 51 ~ 54

• A case of 45,X/47,XXX mosaic Turner syndrome: Clinical manifestations and effect of growth hormone t...

• Yoo Su-Hyun

• Ahn Moon-Bae, Kim Shin-Hee, Cho Won-Kyoung, Jung Min-Ho, Suh Byung-Kyu, Cho Kyoung-Soon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 47 ~ 50

• Shprintzen?Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy

• Jeon Min-Jin

• Park Seul-Gi, Kim Man-Jin, Lim Byung-Chan, Kim Ki-Joong, Chae Jong-Hee, Kim Soo-Yeon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 43 ~ 46

• Clinical features of Senior?Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man

• Chiu Harold Henrison C.

• Sucaldito Ma. Sergia Fatima P., Maceda Ebner Bon G., Montemayor Jan Andre S., Tamondong-Lachica Diana R.

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 39 ~ 42

• Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molec...

• Lee Woong-Woo

• Choi Jong-Moon, Lee Cha-Gon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 34 ~ 38

• Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea

• Kang Min-Ji

• Seong Moon-Woo, Cho Sung-Im, Park Joong-Shin, Jun Jong-Kwan, Park Sung-Sup

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 27 ~ 33

• Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with incr...

• Lee Dong-Sook

• Go Sang-Hee, Na So-Hyun, Park Su-Rim, Ma Jin-Young, Hwang Do-Yeong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 21 ~ 26

• Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic dif...

• Lee Seung-Mi

• Jun Jong-Kwan, Kim Hyun-Young, Shin Seung-Han, Park Jeong-Woo, Kim Min-Kyoung, Park Chan-Wook,&...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 16 ~ 20

• Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 ...

• Hong So-Yeon

• Shim So-Hyun, Park Hee-Jin, Shim Sung-Shin, Kim Ji-Young, Cho Yeon-Kyung, Kim Soo-Hyun, Ch...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 11 ~ 15

• Insight into the pathogensis of polycystic ovarian syndrome

• Jung Yong-Wook

• Lee Gun-Ho, Han You-Jung, Cha Dong-Hyun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.1 1 ~ 10