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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|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|July 20, 2016
Molecular genetic analysis of 30 families with Joubert syndromeT Suzuki, N Miyake, Y Tsurusaki, et al.Pageof 2