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Journal List > J Genet Med > v.14(2)

 
 
Case Report
62 Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family
Bom-Yi Lee, Ju-Yeon Park, Yeon-Woo Lee, Ah-Rum Oh, Shin-Young Lee, So-Yeon Park, Hyun-Mee Ryu, Si-Won Lee
J Genet Med. 2017;14(2)62-66   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.62   SCID: SC000027870
Article       PubReader       ePub-1.2M       PDF-425K      
Case Report
67 Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature
Seung Do Yang, Seung Ju Lee, Dong Hwan Lee, Yong Hee Hong
J Genet Med. 2017;14(2)67-70   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.67   SCID: SC000027871
Article       PubReader       ePub-708K       PDF-489K      
Case Report
71 A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia
Hussein Algahtani, Bader Shirah
J Genet Med. 2017;14(2)71-74   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.71   SCID: SC000027872
Article       PubReader       ePub-1.7M       PDF-3.6M      
Case Report
75 Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Dahye Kim, Yoon-Myung Kim, Go Hun Seo, Gu Hwan Kim, Han Wook Yoo, Mi-Sun Yum, Tae-Sung Ko, Beom Hee Lee
J Genet Med. 2017;14(2)75-79   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.75   SCID: SC000027873
Article       PubReader       ePub-3.6M       PDF-2.6M      
Case Report
80 Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia
Young A Kim, Ji-Yong Kim, Yoo-Mi Kim, Chong Kun Cheon
J Genet Med. 2017;14(2)80-85   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.80   SCID: SC000027874
Article       PubReader       ePub-3.2M       PDF-688K      
Case Report
86 The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
Eun Sun Lee, Jung Min Ko, Jin Su Moon
J Genet Med. 2017;14(2)86-89   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.86   SCID: SC000027875
Article       PubReader       ePub-2.1M       PDF-1.4M      
Original Article
56 Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2
Hye-ji Kim, Go Hun Seo, Yoon Myung Kim, Gu-Hwan Kim, Eul-Ju Seo, Young-Shin Ra, Jin-Ho Choi, Han-Wook Yoo, Beom Hee Lee
J Genet Med. 2017;14(2)56-61   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.56   SCID: SC000027869
Article       PubReader       ePub-1.7M       PDF-3.2M      
Review Article
49 Biomarkers and genetic factors for early prediction of pre-eclampsia
Hannah Kim, Sung Shin Shim
J Genet Med. 2017;14(2)49-55   Published online 2017 December 31
 DOI: https://doi.org/10.5734/JGM.2017.14.2.49   SCID: SC000027868
Article       PubReader       ePub-84K       PDF-238K