• Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes

• Seo Go-Hun

• Kim Yoon-Myung, Ghang Byeong-Zu, Kim Gu-Hwan, Lee Beom-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 43 ~ 47

• An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

• Seo Go-Hun

• Oh A-Rum, Kang Min-Ji, Kim Eun-Na, Jang Ja-Hyun, Kim Dae-Yeon, Kim Kyung-Mo, Yoo Han-Wook,...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 39 ~ 42

• Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutati...

• Song Wung-Joo

• Lee Yoon-Jin, Kang Joon-Won, Chang Mea-Young, Song Kyu-Sang, Kang Dae-Young, Kim Sook-Za

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 31 ~ 38

• Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.539...

• Lee Do-Hwan

• Jang Ja-Hyun, Lee Cha-Gon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 27 ~ 30

• First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnanc...

• Han Sung-Hee

• Seo Jung-Jae, Kim Eun-Seol, Ryu Jae-Song, Hong Seong-Hyeon, Hwang Seung-Yong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 23 ~ 26

• A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis synd...

• Park Bo-Mi

• Kim Young-Ok, Kim Myeong-Kyu, Woo Young-Jong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 19 ~ 22

• Concurrent SHORT syndrome and 3q duplication syndrome

• Boaz Alexander M.

• Grasso Salvatore A., De Rogatis Michael J., Beesley Ellis N.

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 15 ~ 18

• Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormali...

• Jo Hyen-Chul

• Park Ji-Kwon, Baek Jong-Chul, Park JI-Eun, Kang Min-Young, Cho In-Ae

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 10 ~ 14

• Noonan syndrome and RASopathies: Clinical features, diagnosis and management

• Lee Beom-Hee

• Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.1 1 ~ 9