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Brain & Development|March 31, 2015
Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencingTakeshi Kato, Naoya Morisada, Hiroaki Nagase, et al.Pediatric Nephrology (Berlin, Germany)|March 18, 2014
Natural history of genetically proven autosomal recessive Alport syndromeMasafumi Oka, Kandai Nozu, Hiroshi Kaito, et al.Human Genome Variation|March 22, 2024
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiencyNaoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, et al.CEN Case Reports|April 8, 2024
Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case reportYu Tanaka, Tomoko Horinouchi, Yuta Inoki, et al.Human Pathology|May 2, 2016
Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney diseaseTakashi Iijima, Junichi Hoshino, Koki Mise, et al.Clinical and Experimental Nephrology|April 17, 2025
Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney diseaseChina Nagano, Naoya Morisada, Yuta Inoki, et al.Clinical and Experimental Nephrology|March 13, 2016
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencingTomohiko Yamamura, Naoya Morisada, Kandai Nozu, et al.Brain & Development|February 11, 2023
Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1AHiroaki Hanafusa, Hiroshi Yamaguchi, Hidehito Kondo, et al.Human Genome Variation|April 16, 2016
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomyXue J Fu, Naoya Morisada, Fusako Hashimoto, et al.JIMD Reports|April 7, 2025
Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case ReportTomoki Saito, Kento Soma, Mai Kashisaka, et al.Pageof 12