K. Inoue

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

K. Yokochi, K. Misawa, C. Kim, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Different X‐linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Y. Goto, N. Matsumoto, N. Miyake, 2016, Clinical genetics.

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

R. Sokol, M. Ben Hamida, F. Hentati, 1995, Nature genetics.