佐伯紗希 (Saki Saeki) - マイポータル

基本情報

Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.

Maiko Hatano, Hiroko Fukushima, Tatsuyuki Ohto, Yuichi Ueno, Saki Saeki, Takashi Enokizono, Ryuta Tanaka, Mai Tanaka, Kazuo Imagawa, Yu Kanai …

American journal of medical genetics. Part A 185(4) 1113-1119 2021年4月
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.

Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara …

Clinical case reports 7(11) 2059-2063 2019年11月