1. A novel de novo point mutation of the OCT‐binding site in the IGF2/H19‐imprinting control region in a Beckwith–Wiedemann syndrome patient. (4th December 2013) Authors: Higashimoto, K.; Jozaki, K.; Kosho, T.; Matsubara, K.; Fuke, T.; Yamada, D.; Yatsuki, H.; Maeda, T.; Ohtsuka, Y.; Nishioka, K.; Joh, K.; Koseki, H.; Ogata, T.; Soejima, H. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal recessive cystinuria caused by genome‐wide paternal uniparental isodisomy in a patient with Beckwith–Wiedemann syndrome. (8th November 2014) Authors: Ohtsuka, Y.; Higashimoto, K.; Sasaki, K.; Jozaki, K.; Yoshinaga, H.; Okamoto, N.; Takama, Y.; Kubota, A.; Nakayama, M.; Yatsuki, H.; Nishioka, K.; Joh, K.; Mukai, T.; Yoshiura, K.‐i.; Soejima, H. Journal: Clinical genetics Issue: Volume 88:Number 3(2015:Sep.) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗