Shiina, Masaaki

Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Title	Year	PMID
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.	2016	25966631
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.	2012	22426308
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.	2011	22036171