• A neonate with hyperornithinemia-hyperammonemiahomocitrullinuria syndrome from a consanguineous Paki...

• Kim Yoo-Mi

• Lim Han-Hyuk, Gang Mi-Hyeon, Lee Yong-Wook, Kim Sook-Za, Kim Gu-Hwan, Yoo Han-Wook, Ko Jun...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 85 ~ 89

• A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)

• Kim Soo-Kyoung

• Jung So-Yoon, Bae Seong-Phil, Kim Ji-Eun, Lee Jeong-Ho, Lee Dong-Hwan

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 81 ~ 84

• Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two c...

• Park JI-Eun

• Park Ji-Kwon, Kang Min-Young, Jo Hyen-Chul, Cho In-Ae, Baek Jong-Chul

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 76 ~ 80

• Periventricular nodular heterotopia in a child with a mild Mowat?Wilson phenotype caused by a novel ...

• Kim Young-Ok

• Lee Yun-Young, Kim Myeong-Kyu, Woo Young-Jong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 71 ~ 75

• A familial case of limb-girdle muscular dystrophy with CAV3 mutation

• Lee Seung-Bok

• Jang Se-Song, Shim Young-Kyu, Kim Woo-Joong, Kim Soo-Yeon, Cho An-Na, Kim Hun-Min, Kim Jon...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 67 ~ 70

• A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

• Kim Ji-Hye

• Ko Jung-Min, Shin Seung-Han, Kim Ee-Kyung, Ki Han-Suk

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 62 ~ 66

• Clinical and genetic characteristics of Korean patients with IARS2-related disorders

• Lee Jin-Sook

• Kim Man-Jin, Kim Soo-Yeon, Lim Byung-Chan, Kim Ki-Joong, Choi Mu-Rim, Seong Moon-Woo, Chae...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 55 ~ 61

• Identification of Potocki?Lupski syndrome in patients with developmental delay and growth failure

• Jun Su-Jin

• Lee Ye-Na, Oh A-Rum, Kim Gu-Hwan, Seo Eul-Ju, Lee Beom-Hee, Choi Jin-Ho, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2019  Volume.16  No.2 49 ~ 54

• 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