Showing results (71-80 of 118) with videos related to
Sort By:
Pageof 12
Clinical and Experimental Nephrology|February 20, 2025
Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohortYu Tanaka, China Nagano, Nana Sakakibara, et al.Circulation Journal : Official Journal of the Japanese Circulation Society|October 23, 2010
Spontaneous development of left ventricular hypertrophy and diastolic dysfunction in mice lacking all nitric oxide synthasesKiyoko Shibata, Yasuko Yatera, Yumi Furuno, et al.European Journal of Medical Genetics|August 14, 2017
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndromeKeita Nakanishi, Kandai Nozu, Ryugo Hiramoto, et al.Brain & Development|July 6, 2017
Spinal muscular atrophy carriers with two SMN1 copiesMawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, et al.European Journal of Human Genetics : EJHG|May 28, 2015
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndromeXue Jun Fu, Kandai Nozu, Hiroshi Kaito, et al.Journal of Human Genetics|February 10, 2022
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese populationNana Sakakibara, Kandai Nozu, Tomohiko Yamamura, et al.CEN Case Reports|May 29, 2026
A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisisPerry Martel Sy, Minato Baba, Kaori Fujiwara, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2015
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristicsNatsuki Matsunoshita, Kandai Nozu, Akemi Shono, et al.Nephron|November 14, 2017
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin DepositsYurika Tsuji, Kandai Nozu, Tadashi Sofue, et al.Internal Medicine (Tokyo, Japan)|June 18, 2025
Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation: A Case ReportToshiaki Usui, Shun Ishibashi, Akihisa Hattori, et al.Pageof 12