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TypeAuthor(s)TitleOther TitlesCitationCitation(alt)Issue Date
articleNamatame-Ohta, Noriko; Morikawa, Shuntaro; Nakamura, Akie; Matsuo, Kumihiro; Nakajima, Masahide; Tomizawa, Kazuhiro; Tanahashi, Yusuke; Tajima, ToshihiroFour Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations-Case reports in pediatrics-3-Jul-2018
articleNanjo, Kazuhiro; Nagai, So; Shimizu, Chikara; Tajima, Toshihiro; Kondo, Takuma; Miyoshi, Hideaki; Yoshioka, Narihito; Koike, TakaoIdentification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia-Endocrine journal-Sep-2010
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
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
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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