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Clinical Genetics|July 3, 2013
Coffin-Siris syndrome is a SWI/SNF complex disorderY Tsurusaki, N Okamoto, H Ohashi, et al.
Neurology|March 2, 2012
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya diseaseS Miyatake, N Miyake, H Touho, et al.
Clinical Genetics|April 28, 2018
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panelM Kunii, H Doi, Y Ishii, et al.
Scientific Reports|November 16, 2017
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathiesA Hammarsjö, Z Wang, R Vaz, et al.
Clinical Genetics|September 24, 2017
Detection of copy number variations in epilepsy using exome dataN Tsuchida, M Nakashima, M Kato, et al.
Clinical Genetics|July 20, 2016
Molecular genetic analysis of 30 families with Joubert syndromeT Suzuki, N Miyake, Y Tsurusaki, et al.
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