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Human Genome Variation|December 8, 2017
The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic featuresHiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, et al.
Brain & Development|September 17, 2015
Rituximab treatment for relapsed opsoclonus-myoclonus syndromeDaisaku Toyoshima, Naoya Morisada, Yuichi Takami, et al.
Pediatric Nephrology (Berlin, Germany)|July 20, 2020
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2Nana Sakakibara, China Nagano, Shinya Ishiko, et al.
Kidney360|April 4, 2022
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport SyndromeTomoko Horinouchi, Tomohiko Yamamura, China Nagano, et al.
Clinical and Experimental Nephrology|November 20, 2015
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 geneXue Jun Fu, Kandai Nozu, Aya Eguchi, et al.
CEN Case Reports|July 5, 2020
A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndromeYuya Aoto, Tomoo Kise, Koichi Nakanishi, et al.
Biochemistry and Biophysics Reports|November 11, 2017
Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cellsNur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, et al.
Internal Medicine (Tokyo, Japan)|March 20, 2015
A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunctionAkihiro Kuma, Masahito Tamura, Nana Ishimatsu, et al.
Pediatric Nephrology (Berlin, Germany)|February 5, 2010
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertionNaoya Morisada, Nanna Dahl Rendtorff, Kandai Nozu, et al.
Pediatric Neurology|March 15, 2015
Demographics and outcomes of patients with pediatric febrile convulsive status epilepticusMasahiro Nishiyama, Hiroaki Nagase, Tsukasa Tanaka, et al.
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