Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

por Kawai, Miki, Kato, Takema, Tsutsumi, Makiko, Shinkai, Yasuko, Inagaki, Hidehito, Kurahashi, Hiroki
Publicado 2020

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

por Yokoi, Katsuyuki, Nakajima, Yoko, Shinkai, Yasuko, Sano, Yoshimi, Imamura, Mototaka, Akiyama, Tomoyuki, Yoshikawa, Tetsushi, Ito, Tetsuya, Kurahashi, Hiroki
Publicado 2019

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

por Tsutsumi, Makiko, Miura, Hiroki, Inagaki, Hidehito, Shinkai, Yasuko, Kato, Asuka, Kato, Takema, Hamada-Tsutsumi, Susumu, Tanaka, Makito, Kudo, Kazuko, Yoshikawa, Tetsushi, Kurahashi, Hiroki
Publicado 2020

Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach

por Ikeda, Miki, Taniguchi-Ikeda, Mariko, Kato, Takema, Shinkai, Yasuko, Tanaka, Sonoko, Hagiwara, Hiroki, Sasaki, Naomichi, Masaki, Toshihiro, Matsumura, Kiichiro, Sonoo, Masahiro, Kurahashi, Hiroki, Saito, Fumiaki
Publicado 2020

Impact of DPYD, DPYS, and UPB1 gene variations on severe drug‐related toxicity in patients with cancer

por Yokoi, Katsuyuki, Nakajima, Yoko, Matsuoka, Hiroshi, Shinkai, Yasuko, Ishihara, Takuma, Maeda, Yasuhiro, Kato, Takema, Katsuno, Hidetoshi, Masumori, Koji, Kawada, Kenji, Yoshikawa, Tetsushi, Ito, Tetsuya, Kurahashi, Hiroki
Publicado 2020

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

por Tsutsumi, Makiko, Hattori, Hiroyoshi, Akita, Nobuhiro, Maeda, Naoko, Kubota, Toshinobu, Horibe, Keizo, Fujita, Naoko, Kawai, Miki, Shinkai, Yasuko, Kato, Maki, Kato, Takema, Kawamura, Rie, Suzuki, Fumihiko, Kurahashi, Hiroki
Publicado 2019