Faculty Information |
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Language | English |
The announcement title | Novel compound heterozygous mutations in ISPD gene from two cases of Japanese Walker-Warburg syndrome identified by whole-exome sequencing |
Academic Society name | 13th International Congress of Human Genetics |
Conference Type | International Society |
Announcement form | Oral presentation |
Presentation Type | General Lecture |
Lecture Type | General Lecture |
Publisher and common publisher | Yonehiro Kanemura, Fuyuki Miya, Tomoko Shofuda, Ema Yoshioka, Daisuke Kanematsu, Kyoko Itoh, Shinji Fusiki, Takeshi Okinaga, Haruhiko Sago, Rika Kosaki, Kyoko Minagawa, Nobuhiko Okamoto, Tatsuhiko Tshunoda, Mitsuhiro Kato, Shinji Saito, Kenjiro Kosaki, Mami Yamasaki |
Date | 2016/04/03 |
Venue (city and name of the country) |
kyoto |