Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Noritaka Furuya, Hiroshi Yoshihashi, Mari Minatogawa, Chihiro Abe-Hatano, Ikuko Ohashi, Naoto Nishimura, Tatsuro Kumaki, Yumi Enomoto, Takuya Naruto, Fuminori Iwasaki, Noriaki Harada, Aki Ishikawa, Hiroshi Kawame, Kiyoko Sameshima, Yu YamaguchiMasahisa Kobayashi, Makiko Tominaga, Satoshi Ishikiriyama, Toshiaki Tanaka, Hiroshi Suzumura, Shinsuke Ninomiya, Akane Kondo, Tadashi Kaname, Kenjiro Kosaki, Mitsuo Masuno, Yoshikazu Kuroki, Kenji Kurosawa

研究成果: Article査読

14 被引用数 (Scopus)

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「Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

Medicine and Dentistry

Neuroscience

Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science

Immunology and Microbiology