• One Case of BRCA2 Germline Mutation Ovarian Cancer Mother and Carrier Daughter found by Genetic Coun...

• Lee Eun-Jung

• Jeong Hee-Jong, Kim Min-Kyu

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 124 ~ 127

• Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Case...

• Kim Bu-Kyung

• Sohn Young-Bae, Park Sang-Jin, Yim Shin-Young, Chung Yoon-Sok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 120 ~ 123

• A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8

• Lee Jae-Hee

• Kim Heung-Sik, Ha Jung-Sook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 117 ~ 119

• A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephal...

• Yoo Il-Han

• Hong Won-Gi, Lim Byung-Chan, Hwang Hee, Chae Jong-Hee, Kim Ki-Joong, Hwang Yong-Seung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 113 ~ 116

• A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome

• Yang Ji-Hyeon

• Cha Hyo-Hyun, Yoon Hye-Sun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 109 ~ 112

• Paracentric Inversions Found in Prenatal Diagnosis

• Lee Shin-Yeong

• Lee Bom-Yi, Park Ju-Yeon, Choi Eun-Young, Lee Yeon-Woo, Oh Ah-Rum, Ryu Hyun-Mee, Park So-Y...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 104 ~ 108

• Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution

• Chae Yong-Hwa

• Kwak Dong-Wook, Kim Moon-Young, Park So-Yeon, Lee Bom-Yi, Lee Yeon-Woo, Lee Young-Ho, Song...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 99 ~ 103

• Female Carriers of Duchenne Muscular Dystrophy

• Cho Yu-Na

• Choi Young-Chul

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 94 ~ 98

• Alexander Disease

• Kang Ji-Hae

• Hong Seung-Jee, Kim Doo-Kwun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 88 ~ 93

• Pseudohypoaldosteronism Type 1

• Cheong Hae-Il

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.2 81 ~ 87

• Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

• Lee Cha-Gon

• Yun Jun-No, Park Sang-Jin, Sohn Young-Bae

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 52 ~ 56

• Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report

• Lee Yun-Jeong

• Yum Mi-Sun, Kim Eun-Hee, Choi Hae-Won, Lee Beom-Hee, Yoo Han-Wook, Ko Tae-Sung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 47 ~ 51

• An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation

• Shin Soon-Jung

• Kim Ja-Hye, Kim Yoo-Mi, Kim Gu-Hwan, Lee Beom-Hee, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 43 ~ 46

• Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Case...

• Kwak Dong-Wook

• Kim Hyun-Jin, Park So-Yeon, Ahn Hyun-Suk, Chae Yong-Hwa, Kim Moon-Young, Lee Young-Ha, Ryu...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 38 ~ 42

• Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystro...

• Yum Mi-Sun

• Lee Beom-Hee, Kim Gu-Hwan, Lee Jin-Joo, Choi Seung-Hoon, Lee Joo-Yeon, Kim Jae-Min, Kim Yo...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 33 ~ 37

• Bioinformatics Approaches for the Identification and Annotation of RNA Editing Sites

• Lee Soo-Youn

• Kim Ju-Han

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 27 ~ 32

• Genetics of Mitochondrial Myopathies

• Shin Jin-Hong

• Kim Dae-Seong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 20 ~ 26

• Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation

• Yoo Chang-Ki

• Yu Hyeong-Gon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 13 ~ 19

• Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation

• Lee Young-Ki

• Lee Dong-Hun, Noh Jung-Woo

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 7 ~ 12

• Chronic Granulomatous Disease on Jeju Island, Korea

• Cho Moon-Jae

• Shin Kyung-Sue

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2013  Volume.10  No.1 1 ~ 6