Author/Creator: Shimbo, Hiroko - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Shimbo, Hiroko

1. Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9. (2nd May 2017)

Authors:: Shimbo, Hiroko; Oyoshi, Tatsuki; Kurosawa, Kenji
Journal:: Congenital anomalies
Issue:: Volume 58:Number 1(2018)
Page Start:: 33
Record Type:: Journal Article
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2. Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome. Issue 4 (22nd May 2017)

Authors:: Shimbo, Hiroko; Yokoi, Takayuki; Aida, Noriko; Mizuno, Seiji; Suzumura, Hiroshi; Nagai, Junichi; Ida, Kazumi; Enomoto, Yumi; Hatano, Chihiro; Kurosawa, Kenji
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 5:Issue 4(2017)
Page Start:: 429
Record Type:: Journal Article
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3. Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene. Issue 10 (18th October 2019)

Authors:: Ichikawa, Kazushi; Tsuyusaki, Yu; Shimbo, Hiroko; Goto, Tomohide
Journal:: Pediatrics international
Issue:: Volume 61:Issue 10(2019)
Page Start:: 1055
Record Type:: Journal Article
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4. Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. Issue 9 (17th March 2011)

Authors:: Tsurusaki, Yoshinori; Osaka, Hitoshi; Hamanoue, Haruka; Shimbo, Hiroko; Tsuji, Megumi; Doi, Hiroshi; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko
Journal:: Journal of medical genetics
Issue:: Volume 48:Issue 9(2011)
Page Start:: 606
Record Type:: Journal Article
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