Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

por Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji
Publicado 2018

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

por Yokoi, Takayuki, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji, Higurashi, Norimichi
Publicado 2020

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

por Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji
Publicado 2020

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita

por Akahira-Azuma, Moe, Enomoto, Yumi, Nakamura, Naoyuki, Yokoi, Takayuki, Minatogawa, Mari, Harada, Noriaki, Tsurusaki, Yoshinori, Kurosawa, Kenji
Publicado 2022

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

por Hayashi, Shion, Yokoi, Takayuki, Hatano, Chihiro, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kobayashi, Masahisa, Ida, Hiroyuki, Kurosawa, Kenji
Publicado 2018

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

por Shimbo, Hiroko, Yokoi, Takayuki, Aida, Noriko, Mizuno, Seiji, Suzumura, Hiroshi, Nagai, Junichi, Ida, Kazumi, Enomoto, Yumi, Hatano, Chihiro, Kurosawa, Kenji
Publicado 2017