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Clinical Genetics|April 5, 2014
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsyJ Nakajima, N Okamoto, J Tohyama, et al.
Clinical Genetics|June 2, 2016
Characterization of SPATA5-related encephalopathy in early childhoodH Kurata, H Terashima, M Nakashima, et al.
Clinical Genetics|February 27, 2016
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?A Fujita, C Waga, Y Hachiya, et al.
International Journal of Immunogenetics|March 9, 2011
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIaH Tadaki, H Saitsu, H Kanegane, et al.
Clinical Genetics|March 27, 2015
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutationsN Miyake, Y Tsurusaki, E Koshimizu, et al.
Clinical Genetics|May 31, 2017
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathyN Tsuchida, M Nakashima, A Miyauchi, et al.
Clinical Genetics|July 3, 2013
Coffin-Siris syndrome is a SWI/SNF complex disorderY Tsurusaki, N Okamoto, H Ohashi, et al.
Japanese Journal of Cancer Research : Gann|February 1, 1996
A prospective randomized trial of the preventive effect of pre-operative transcatheter arterial embolization against recurrence of hepatocellular carcinomaS Yamasaki, H Hasegawa, H Kinoshita, 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.
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.
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