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1 |
Biomarkers and genetic factors for early prediction of pre-eclampsia
Kim, Hannah;Shim, Sung Shin;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.49-55,
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2 |
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-Wook;Lee, Beom Hee;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.56-61,
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3 |
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-Won;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.62-66,
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4 |
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;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.67-70,
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5 |
A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia
Algahtani, Hussein;Shirah, Bader;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.71-74,
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6 |
Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Kim, Dahye;Kim, Yoon-Myung;Seo, Go Hun;Kim, Gu Hwan;Yoo, Han Wook;Yum, Mi-Sun;Ko, Tae-Sung;Lee, Beom Hee;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.75-79,
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7 |
Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia
Kim, Young A;Kim, Ji-Yong;Kim, Yoo-Mi;Cheon, Chong Kun;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.80-85,
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8 |
The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
Lee, Eun Sun;Ko, Jung Min;Moon, Jin Su;
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Korean Society of Medical Genetics and Genomics
, v.14, no.2, pp.86-89,
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