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Journal of Molecular Medicine (Berlin, Germany)|March 2, 2024
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutationsDennis Lebeda, Adrian Fierenz, Lina Werfel, et al.
Kidney International Reports|November 29, 2023
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of LifeLina Werfel, Helge Martens, Imke Hennies, et al.
European Journal of Human Genetics : EJHG|October 17, 2024
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tractEsra Kesdiren, Helge Martens, Frank Brand, et al.
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