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Scientific Reports|December 10, 2016
Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age childrenKaori Maeyama, Ichiro Morioka, Sota Iwatani, et al.Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.Stem Cells International|November 16, 2017
Involvement of WNT Signaling in the Regulation of Gestational Age-Dependent Umbilical Cord-Derived Mesenchymal Stem Cell ProliferationSota Iwatani, Akemi Shono, Makiko Yoshida, et al.Journal of Human Genetics|October 28, 2016
Cryptic exon activation in SLC12A3 in Gitelman syndromeKandai Nozu, Yoshimi Nozu, Keita Nakanishi, et al.Journal of Human Genetics|April 12, 2020
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitaliaRie Kawamura, Takema Kato, Shunsuke Miyai, et al.Iscience|October 11, 2021
Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophyMariko Taniguchi-Ikeda, Michiyo Koyanagi-Aoi, Tatsuo Maruyama, et al.American Journal of Medical Genetics. Part A|October 1, 2015
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiencyTaku Nakagawa, Mariko Taniguchi-Ikeda, Yoshiko Murakami, et al.Journal of Human Genetics|June 1, 2018
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndromeNatsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, et al.Clinical and Experimental Nephrology|November 1, 2016
Female X-linked Alport syndrome with somatic mosaicismKana Yokota, Kandai Nozu, Shogo Minamikawa, et al.Journal of Human Genetics|February 21, 2018
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent diseaseShogo Minamikawa, Kandai Nozu, Yoshimi Nozu, et al.Pageof 7