Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing

Por Chang, Mun Young, Kim, Ah Reum, Kim, Nayoung K.D., Lee, Chung, Lee, Kyoung Yeul, Jeon, Woo-Sung, Koo, Ja-Won, Oh, Seung Ha, Park, Woong-Yang, Kim, Dongsup, Choi, Byung Yoon
Publicado no Mol Cells (2015)

Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain

Por Kim, Nayoung K. D., Higashi, Tomohito, Lee, Kyoung Yeul, Kim, Ah Reum, Kitajiri, Shin-ichiro, Kim, Min Young, Chang, Mun Young, Kim, Veronica, Oh, Seung-Ha, Kim, Dongsup, Furuse, Mikio, Park, Woong-Yang, Choi, Byung Yoon
Publicado no PLoS One (2015)

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Por Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu
Publicado no Am J Hum Genet (2016)