• 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

• Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex l...

• Park Sang-Hee

• Shim Sung-Han, Jung Yong-Wook, Shim So-Hyun, Chin Mi-Uk, Park Ji-Eun, Bae Sung-Mi, Lyu San...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 43 ~ 47

• Prenatal diagnosis of 4p deletion syndrome: A case series report

• Kwak Dong-Wook

• Ahn Hyun-Kyong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 38 ~ 42

• Prenatal diagnosis of 5p deletion syndrome: A case series report

• Han You-Jung

• Kwak Dong-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 34 ~ 37

• A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,00...

• Cha Dong-Hyun

• Lee Jun-Nam, Jeon Young-Joo, Jung Yong-Wook, Jang Ja-Hyun, Lee Tae-Heon, Cho Eun-Hae

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 31 ~ 33

• A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

• Lee Ju-Yeen

• Kim Won-Duck, Kim Hae-Sook, Lee Eun-Kyung, Park Hyung-Doo

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 27 ~ 30

• Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxyl...

• Kim Yoon-Myung

• Seo Go-Hun, Kim Gu-Hwan, Yoo Han-Wook, Lee Beom-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 23 ~ 26

• Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

• Lee Ji-Hyen

• Kim Hae-Soon, Kim Gu-Hwan, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 18 ~ 22

• A genome-wide association study of the association between single nucleotide polymorphisms and brach...

• Xu Enshi

• Shin Jin-Ho, Lim Ji-Eun, Kim Mi-Kyung, Choi Bo-Youl, Shin Min-Ho, Shin Dong-Hoon, Lee Youn...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 8 ~ 17

• First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epige...

• Lee Da-Eun

• Kim Shin-Young, Kim Hyun-Jin, Park So-Yeon, Kim Min-Hyoung, Han You-Jung, Ryu Hyun-Mee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2017  Volume.14  No.1 1 ~ 7