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Nature|October 8, 2011
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophyMariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndromeXue Jun Fu, Kandai Nozu, Hiroshi Kaito, et al.
Journal of Human Genetics|August 26, 2017
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndromeMiwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, et al.
Journal of Human Genetics|April 28, 2017
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndromeMiwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, et al.
Human Genome Variation|April 16, 2016
Prenatal genetic testing for familial severe congenital protein C deficiencyShinya Tairaku, Mariko Taniguchi-Ikeda, Yoko Okazaki, et al.
Brain & Development|August 27, 2018
Fosphenytoin vs. continuous midazolam for pediatric febrile status epilepticusMasahiro Nishiyama, Hiroaki Nagase, Kazumi Tomioka, et al.
Journal of Autism and Developmental Disorders|November 30, 2017
Congenital Cytomegalovirus Infection in Children with Autism Spectrum Disorder: Systematic Review and Meta-AnalysisKaori Maeyama, Kazumi Tomioka, Hiroaki Nagase, et al.
Nephron|November 14, 2017
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin DepositsYurika Tsuji, Kandai Nozu, Tadashi Sofue, et al.
Brain & Development|March 24, 2018
Early risk factors for mortality in children with seizure and/or impaired consciousness accompanied by fever without known etiologyKazumi Tomioka, Hiroaki Nagase, Tsukasa Tanaka, et al.
Brain & Development|March 9, 2016
Short and long-term outcomes in children with suspected acute encephalopathyMasahiro Nishiyama, Hiroaki Nagase, Tsukasa Tanaka, et al.
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