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CEN Case Reports|February 5, 2026
Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variantShinya Tomori, Kenichiro Miura, Yoko Shirai, et al.
CEN Case Reports|February 27, 2024
A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cystsChika Muroga, Hiroki Yokoyama, Ryo Kinoshita, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|December 13, 2019
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathyKandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi, et al.
Brain & Development|December 24, 2017
Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, et al.
Internal Medicine (Tokyo, Japan)|June 28, 2019
An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation PatternsTakashi Iijima, Noriko Hayami, Kenmei Takaichi, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|October 23, 2014
16q12 microdeletion syndrome in two Japanese boysNaoya Morisada, Takashi Sekine, Shingo Ishimori, et al.
Annals of Clinical and Translational Neurology|November 2, 2019
De novo NSF mutations cause early infantile epileptic encephalopathyHisato Suzuki, Takeshi Yoshida, Naoya Morisada, et al.
Brain and Behavior|February 6, 2025
Identification of Genetic Variants in Status Epilepticus Associated With FeverHiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, et al.
Biochemical Pharmacology|June 24, 2003
Stimulation of catecholamine synthesis by orexin-A in bovine adrenal medullary cells through orexin receptor 1Yasusada Kawada, Susumu Ueno, Kohtaro Asayama, et al.
No to Hattatsu = Brain and Development|June 29, 2016
[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]Naoya Morisada, Syuichi Tsuneishi, Kazuhiro Taguchi, et al.
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