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Journal List > J Genet Med > v.12(1)

Case Report
44 Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Yeon Jeong Seo, Ko Eun Lee, Jung Min Ko, Gu-Hwan Kim, Han-Wook Yoo
J Genet Med. 2015;12(1)44-48   Published online 2015 June 30
 DOI:   SCID: SC000012622
Article       PubReader       ePub-660K       PDF-6.3M      
Case Report
49 An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea
Bom-Yi Lee, Ju-Yeon Park, Yeon-Woo Lee, Ah-Rum Oh, Shin-Young Lee, Eun-Young Choi, Moon-Young Kim, Hyun-Mee Ryu, So-Yeon Park
J Genet Med. 2015;12(1)49-56   Published online 2015 June 30
 DOI:   SCID: SC000012623
Article       PubReader       ePub-269K       PDF-1.8M      
Case Report
57 A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Yu Yun Son, Byeonghyeon Lee, Chae-Ri Suh, Hyo-Kyoung Nam, Jung Hwa Lee, Young Sook Hong, Joo Won Lee
J Genet Med. 2015;12(1)57-60   Published online 2015 June 30
 DOI:   SCID: SC000012624
Article       PubReader       ePub-111K       PDF-1008K      
Original Article
25 Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1
Yu-Ri Choi, Sung-Chul Jung, Jinhee Shin, So Young Yoo, Ji-Su Lee, Jaesoon Joo, Jinho Lee, Young Bin Hong, Byung-Ok Choi
J Genet Med. 2015;12(1)25-30   Published online 2015 June 30
 DOI:   SCID: SC000012619
Article       PubReader       ePub-256K       PDF-1.0M      
Original Article
31 Neurogenic potentials of human amniotic fluid-derived stem cells according to expression levels of stem cell markers and ingredients of induction medium
Eun Hye Lim, Jung Ah Cho, Ho Park, Tae Jong Song, Woo Young Kim, Kye Hyun Kim, Kyo Won Lee
J Genet Med. 2015;12(1)31-37   Published online 2015 June 30
 DOI:   SCID: SC000012620
Article       PubReader       ePub-857K       PDF-3.8M      
Original Article
38 Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17
Gu-Hwan Kim, Sun Ju Chung, Ho-Sung Ryu, Jaemin Kim, Jin-Joo Lee, Seoung Hoon Choi, Juyeon Lee, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
J Genet Med. 2015;12(1)38-43   Published online 2015 June 30
 DOI:   SCID: SC000012621
Article       PubReader       ePub-795K       PDF-2.1M      
Review Article
1 The role of de novo variants in complex and rare diseases pathogenesis
Mahir Rahman, Woohyung Lee, Choi Murim
J Genet Med. 2015;12(1)1-5   Published online 2015 June 30
 DOI:   SCID: SC000012615
Article       PubReader       ePub-81K       PDF-728K      
Review Article
12 Molecular genetic decoding of malformations of cortical development
Jae Seok Lim, Jeong Ho Lee
J Genet Med. 2015;12(1)12-18   Published online 2015 June 30
 DOI:   SCID: SC000012617
Article       PubReader       ePub-401K       PDF-1.2M      
Review Article
19 Recent advances in genetic studies of stuttering
Kang Changsoo
J Genet Med. 2015;12(1)19-24   Published online 2015 June 30
 DOI:   SCID: SC000012618
Article       PubReader       ePub-111K       PDF-729K      
Review Article
6 Diagnostic approach for genetic causes of intellectual disability
Shin-Young Yim
J Genet Med. 2015;12(1)6-11   Published online 2015 June 30
 DOI:   SCID: SC000012616
Article       PubReader       ePub-82K       PDF-720K