• The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations

• Lee Eun-Sun

• Ko Jung-Min, Moon Jin-Su

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 86 ~ 89

• Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic ac...

• Kim Young-A

• Kim Ji-Yong, Kim Yoo-Mi, Cheon Chong-Kun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 80 ~ 85

• Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular...

• Kim Da-Hye

• Kim Yoon-Myung, Seo Go-Hun, Kim Gu-Hwan, Yoo Han-Wook, Yum Mi-Sun, Ko Tae-Sung, Lee Beom-H...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 75 ~ 79

• A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

• Algahtani Hussein

• Shirah Bader Hamza

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 71 ~ 74

• Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature

• Yang Seung-Do

• Lee Seung-Ju, Lee Dong-Hwan, Hong Yong-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 67 ~ 70

• Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

• Lee Bom-Yi

• Park Ju-Yeon, Lee Yeon-Woo, Oh Ah-Rum, Lee Shin-Young, Park So-Yeon, Ryu Hyun-Mee, Lee Si-...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 62 ~ 66

• Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

• Kim Hye-Ji

• Seo Go-Hun, Kim Yoon-Myung, Kim Gu-Hwan, Seo Eul-Ju, Ra Young-Shin, Choi Jin-Ho, Yoo Han-W...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 56 ~ 61

• Biomarkers and genetic factors for early prediction of pre-eclampsia

• Kim Han-Nah

• Shim Sung-Shin

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.2 49 ~ 55