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TypeAuthor(s)TitleOther TitlesCitationCitation(alt)Issue Date
article (author version)Morikawa, Shuntaro; Tajima, Toshihiro; Nakamura, Akie; Ishizu, Katsura; Ariga, TadashiA novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndromeConstitutive ER stress and Wolfram syndromePediatric diabetes-Dec-2017
articleMorikawa, Shuntaro; Moriya, Kimihiko; Ishizu, Katsura; Tajima, ToshihiroTwo heterozygous mutations of the AMH gene in a Japanese patient with persistent Mullerian duct syndrome-Journal of pediatric endocrinology & metabolism-Nov-2014
articleNakamura, Akie; Hotsubo, Tomoyuki; Kobayashi, Keiji; Mochizuki, Hiroshi; Ishizu, Katsura; Tajima, ToshihiroLoss-of-Function and Gain-of-Function Mutations of Calcium-Sensing Receptor: Functional Analysis and the Effect of Allosteric Modulators NPS R-568 and NPS 2143-Journal of clinical endocrinology & metabolism-Oct-2013
articleNakamura, Akie; Bak, Beata; Silander, Tanya L. R.; Lam, Jessica; Hotsubo, Tomoyuki; Yorifuji, Toru; Ishizu, Katsura; Bernard, Daniel J.; Tajima, ToshihiroThree Novel IGSF1 Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism-Journal of clinical endocrinology & metabolism-Oct-2013
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