Yoshio Makita

The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome

Takuma Ishii, Yoshio Makita, Atsushi Ogawa et al. · Brain and Development · 2001 · 60 citations

Mendelian Disorder, Genetic Disorder, Rett Syndrome +6

Intrafamilial phenotypic variability in Engelmann disease (ED): Are ED and Ribbing disease the same entity?

Yoshio Makita, Gen Nishimura, Shiro Ikegawa et al. · American Journal of Medical Genetics · 2000 · 52 citations

Same Entity, Radiology, Mendelian Disorder +15

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein‐Taybi syndrome

Mitsuo Masuno, Kiyoshi Imaizumi, K Kurosawa et al. · American Journal of Medical Genetics · 1994 · 31 citations

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene

Shiro Ikegawa, Mitsuo Masuno, Yoshiharu Kumano et al. · Clinical Genetics · 1999 · 10 citations