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Clinical and Experimental Nephrology|November 1, 2016
Female X-linked Alport syndrome with somatic mosaicismKana Yokota, Kandai Nozu, Shogo Minamikawa, et al.Nephrology (Carlton, Vic.)|June 17, 2017
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reportsTakahisa Yoshikawa, Koichi Kamei, Hiroko Nagata, et al.Scientific Reports|August 10, 2021
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databasesAtsushi Kondo, China Nagano, Shinya Ishiko, et al.Kidney International|July 27, 2020
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndromeTomohiko Yamamura, Tomoko Horinouchi, China Nagano, et al.Clinical and Experimental Nephrology|January 27, 2018
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseasesChina Nagano, Kandai Nozu, Naoya Morisada, 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.Pediatric Neurology|June 9, 2016
Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural VariationsYoriko Noguchi, Akira Onishi, Yuji Nakamachi, et al.The Journal of Pediatrics|February 8, 2022
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number VariationsHisato Suzuki, Masatoshi Nozaki, Hiroshi Yoshihashi, et al.Journal of Human Genetics|January 22, 2020
Molecular mechanisms determining severity in patients with Pierson syndromeShogo Minamikawa, Saori Miwa, Tetsuji Inagaki, et al.Brain & Development|April 24, 2021
Phenotypes of SMA patients retaining SMN1 with intragenic mutationYogik Onky Silvana Wijaya, Mawaddah Ar Rohmah, Emma Tabe Eko Niba, et al.Pageof 12