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The Lancet. Child & Adolescent Health|March 14, 2026
Survival, kidney function, and complications in the first year of life following intrauterine shunting for first-trimester fetal megacystis (IUS1st): analysis of a prospective observational cohortEva C Weber, Stefan Kohl, Ingo Gottschalk, et al.Pediatric Nephrology (Berlin, Germany)|April 16, 2025
Risks and benefits of ChatGPT in informing patients and families with rare kidney diseases: an explorative assessment by the European Rare Kidney Disease Reference Network (ERKNet)Albertien M van Eerde, Ana Teixeira, Flavia Galletti, et al.Journal of the American Society of Nephrology : JASN|May 7, 2016
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary TractAsaf Vivante, Daw-Yang Hwang, Stefan Kohl, et al.Kidney International Reports|May 20, 2021
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo SignalingFrancesca Fabretti, Nikolai Tschernoster, Florian Erger, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 25, 2016
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tractStefan Kohl, Jing Chen, Asaf Vivante, et al.Human Mutation|August 22, 2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL AssociationAlina C Hilger, Jan Halbritter, Tracie Pennimpede, et al.Pediatric Nephrology (Berlin, Germany)|February 4, 2025
Urinary Dickkopf-related protein 3 as a novel biomarker for kidney function decline in children with Alport syndromeJan Boeckhaus, Burkhard Tönshoff, Lutz T Weber, et al.Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.Human Genetics|June 24, 2019
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humansThomas M Kitzler, Ronen Schneider, Stefan Kohl, et al.The Journal of Clinical Investigation|May 12, 2015
KANK deficiency leads to podocyte dysfunction and nephrotic syndromeHeon Yung Gee, Fujian Zhang, Shazia Ashraf, et al.Pageof 5