Showing results (61-70 of 118) with videos related to
Sort By:
Pageof 12
Case Reports in Nephrology and Dialysis|January 5, 2024
Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case ReportHideki Uedono, Katsuhito Mori, Shinya Nakatani, et al.Scientific Reports|January 20, 2022
Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndromeMasatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, et al.Brain & Development|May 9, 2025
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicingHaruka Nozaki, Nana Sakakibara, Hiroaki Hanafusa, et al.Molecular Cytogenetics|December 6, 2014
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocationDivya Mishra, Takema Kato, Hidehito Inagaki, et al.Pediatric Transplantation|February 23, 2016
New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutationShoichiro Kanda, Naoya Morisada, Naoto Kaneko, et al.Pediatric Nephrology (Berlin, Germany)|April 3, 2019
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institutionSho Ishiwa, Mai Sato, Naoya Morisada, et al.Early Human Development|November 27, 2012
Metabolomics analysis of umbilical cord blood clarifies changes in saccharides associated with delivery methodFusako Hashimoto, Shin Nishiumi, Osamu Miyake, et al.Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine|July 22, 2026
Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylationHitomi Fujishiro, Naoya Morisada, Nao Mitani, et al.Journal of Human Genetics|March 24, 2020
Clinical and genetic variability of PAX2-related disorder in the Japanese populationRini Rossanti, Naoya Morisada, Kandai Nozu, et al.Kidney International|December 6, 2013
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chainYuya Hashimura, Kandai Nozu, Hiroshi Kaito, et al.Pageof 12