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Pediatric Nephrology (Berlin, Germany)|July 26, 2011
Genetic basis of cystinosis in Turkish patients: a single-center experienceRezan Topaloglu, Thierry Vilboux, Turgay Coskun, et al.Journal of Clinical Medicine|August 23, 2019
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I DeficiencySofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, et al.European Journal of Human Genetics : EJHG|October 8, 2009
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defectsPaulien Smits, Sandy Mattijssen, Eva Morava, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 29, 2010
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)Dineke Westra, Elena Volokhina, Eefje van der Heijden, et al.The Journal of Pediatrics|September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMaïlys Guillard, Eva Morava, Jorg de Ruijter, et al.Journal of the American Society of Nephrology : JASN|August 11, 2006
Induction of glomerular heparanase expression in rats with adriamycin nephropathy is regulated by reactive oxygen species and the renin-angiotensin systemAndrea Kramer, Mabel van den Hoven, Angelique Rops, et al.Elife|August 7, 2016
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationBianca Hartmann, Timothy Wai, Hao Hu, et al.European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.Investigative Ophthalmology & Visual Science|December 5, 2025
Effect of Pegcetacoplan on Aqueous Humor Proteome in Geographic Atrophy: A Prospective ExplorationOmer Trivizki, Charles C Wykoff, Magda A Smoor, et al.Clinical Journal of the American Society of Nephrology : CJASN|April 24, 2023
Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic MicroangiopathiesAlexis Werion, Pauline Storms, Ysaline Zizi, et al.Pageof 4