Kosuke Taniguchi
7PUBLICATIONS
8CO-AUTHORS
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Publications (7)
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|Mar 13, 2025
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki
|Aug 25, 2024
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.Layla Masuda, Akihiro Hasegawa, Hiromi Kamura
|Oct 13, 2023
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.Ichiro Takeuchi, Kanako Tanase-Nakao, Ayame Ogawa
|Dec 12, 2022
A novel FLNA variant in a fetus with skeletal dysplasia.Kyoko Oshina, Yoshimasa Kamei, Asuka Hori
|Nov 14, 2022
Novel missense COL2A1 variant in a fetus with achondrogenesis type II.Yukari Kobayashi, Yuki Ito, Kosuke Taniguchi
|Jan 15, 2021
Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.Kosuke Taniguchi, Mikihiro Inoue, Katsuhiro Arai
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