Takayuki Yokoi

Clinical and genetic study of Japanese patients with type 3 Gaucher disease

Asako Tajima, Takayuki Yokoi, Masamichi Ariga et al. · Molecular Genetics and Metabolism · 2009 · 80 citations

Gaucher Disease, Genetics, Genetic Epidemiology +2

Update of the genotype and phenotype of<scp><i>KMT2D</i></scp>and<scp><i>KDM6A</i></scp>by genetic screening of 100 patients with clinically suspected Kabuki syndrome

Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto et al. · American Journal of Medical Genetics Part A · 2020 · 34 citations

Haploinsufficiency of <i><scp>BCL</scp>11A</i> associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

Hiroko Shimbo, Takayuki Yokoi, Noriko Aida et al. · Molecular Genetics & Genomic Medicine · 2017 · 26 citations · Full text

Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease

Yurika Nishiyama, Yohta Shimada, Takayuki Yokoi et al. · Molecular Genetics and Metabolism · 2012 · 20 citations

Inflammation, Pompe Disease, Mitophagy +11

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability

Yumi Enomoto, Yoshinori Tsurusaki, Takayuki Yokoi et al. · European Journal of Medical Genetics · 2018 · 19 citations

Cnv Analysis, Mendelian Disorder, Genetic Disorder +7