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Brain & Development|August 11, 2012
MECP2 duplication syndrome in both gendersShino Shimada, Nobuhiko Okamoto, Masahiro Ito, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|June 2, 2015
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4Akihisa Okumura, Atsushi Ishii, Keiko Shimojima, et al.Epilepsia|January 6, 2011
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort studyMotoko Otsuka, Hirokazu Oguni, Jao-Shwann Liang, et al.Intractable & Rare Diseases Research|February 26, 2024
Haploinsufficiency of <i>NKX2-1</i> is likely to contribute to developmental delay involving 14q13 microdeletionsOsamu Machida, Haruko Sakamoto, Keiko Shimojima Yamamoto, et al.Journal of Human Genetics|June 15, 2012
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplicationKeiko Shimojima, Takahito Inoue, Yuki Imai, et al.Journal of Human Genetics|July 9, 2023
Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patternsKeiko Shimojima Yamamoto, Takeaki Tamura, Nobuhiko Okamoto, et al.Journal of Human Genetics|June 22, 2012
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelinationKeiko Shimojima, Nobuhiko Okamoto, Yume Suzuki, et al.Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.American Journal of Medical Genetics. Part A|September 17, 2013
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvementKaoru Eto, Norio Sakai, Shino Shimada, et al.Seizure|February 4, 2012
8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndromeTojo Nakayama, Shin Nabatame, Yoshiaki Saito, et al.Pageof 15