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Biological & Pharmaceutical Bulletin|January 5, 2017
Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and LocalizationTatsuki Uemura, Shingo Ito, Yusuke Ohta, et al.
Chembiochem : a European Journal of Chemical Biology|March 19, 2016
Effect of ATRX and G-Quadruplex Formation by the VNTR Sequence on α-Globin Gene ExpressionYue Li, Junetha Syed, Yuki Suzuki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|April 15, 2015
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCETakahito Wada, Kyoko Takano, Yoshinori Tsurusaki, et al.
Journal of Genetic Counseling|October 5, 2024
Psychosocial impact on individuals who received negative test results from predictive testing for Huntington's disease: An exploratory qualitative studyHarumo Osawa, Manami Matsukawa, Akiko Yoshida, et al.
Journal of Dermatological Science|May 3, 2003
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)Atsushi Kato, Kazuyoshi Fukai, Naoki Oiso, et al.
Annals of Neurology|July 12, 2002
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)Maki Takahashi, Ayaka Yamamoto, Kyoko Takano, et al.
Human Genome Variation|September 14, 2022
The ATRX splicing variant c.21-1G>A is asymptomaticKarin Kojima, Takahito Wada, Hiroko Shimbo, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2Yukiko Kuroda, Ikuko Ohashi, Toshiyuki Saito, et al.
Scientific Reports|August 6, 2017
CDK5 Regulatory Subunit-Associated Protein 1-like 1 Negatively Regulates Adipocyte Differentiation through Activation of Wnt Signaling PathwayKazumi Take, Hironori Waki, Wei Sun, et al.
No to Hattatsu = Brain and Development|February 23, 2012
[Clinical characteristics of acute encephalopathies associated with influenza H1N1-2009 in children]Yoshihiro Watanabe, Megumi Tsuji, Kiyoko Sameshima, et al.
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