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Pediatric Nephrology (Berlin, Germany)|June 21, 2024
Recessive variants in MYO1C as a potential novel cause of proteinuric kidney diseaseIzzeldin Elmubarak, Shirlee Shril, Bshara Mansour, et al.American Journal of Medical Genetics. Part A|January 24, 2023
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tractCaroline M Kolvenbach, Bixia Zheng, Lea M Merz, et al.Scientific Reports|July 10, 2024
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish typeKatharina Lemberg, Nils D Mertens, Kirollos Yousef, et al.American Journal of Physiology. Renal Physiology|March 14, 2024
Quantitative phenotyping of <i>Nphs1</i> knockout mice as a prerequisite for gene replacement studiesFlorian Buerger, Lea M Merz, Ken Saida, et al.Journal of Nephrology|July 14, 2024
Phenotypic quantification of Nphs1-deficient miceRonen Schneider, Bshara Mansour, Caroline M Kolvenbach, et al.Kidney International Reports|October 27, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center CohortKatharina Lemberg, Mohamed A Shalaby, Elena Zion, et al.Pediatric Nephrology (Berlin, Germany)|January 23, 2026
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndromeBshara Mansour, Katharina Lemberg, Ronen Schneider, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.Pageof 2