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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia Cho, Sung Yoon; Bae, Jun-Seok; Kim, Nayoung K. D.; Forzano, Francesca; Girisha, Katta Mohan; Baldo, Chiara; Faravelli, Francesca; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.98, no.6, pp.1243 - 1248, 2016-06 |
Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain![]() Kim, Nayoung K. D.; Higashi, Tomohito; Lee, Kyoung Yeul; Kim, Ah Reum; Kitajiri, Shin-ichiro; Kim, Min Young; Chang, Mun Young; et al, PLOS ONE, v.10, no.2, 2015-02 |
Identification and Clinical Implications of Novel MY015A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing Chang, Mun Young; Kim, Ah Reum; Kim, Nayoung K. D.; Lee, Chung; Lee, Kyoung Yeul; Jeon, Woo-Sung; Koo, Ja-Won; et al, MOLECULES AND CELLS, v.38, no.9, pp.781 - 788, 2015-09 |
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