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Scientific Reports|December 2, 2022
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotypeMagdalena Koczkowska, Marcin Jąkalski, Dorota Birkholz-Walerzak, et al.
Human Mutation|November 15, 2013
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrumKarim Bouchireb, Olivia Boyer, Olivier Gribouval, et al.
Plos One|August 11, 2017
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasiaBeata S Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, et al.
Pediatric Nephrology (Berlin, Germany)|October 31, 2022
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppressionAgnes Trautmann, Svenja Seide, Beata S Lipska-Ziętkiewicz, et al.
Kidney International|January 10, 2014
Genotype-phenotype associations in WT1 glomerulopathyBeata S Lipska, Bruno Ranchin, Paraskevas Iatropoulos, et al.
Kidney International|December 14, 2020
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlifeAleksandra M Żurowska, Olga Bielska, Patrycja Daca-Roszak, et al.
Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 31, 2015
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohortAgnes Trautmann, Monica Bodria, Fatih Ozaltin, et al.
Journal of the American Society of Nephrology : JASN|June 2, 2017
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in ChildrenAgnes Trautmann, Sven Schnaidt, Beata S Lipska-Ziętkiewicz, et al.
European Journal of Human Genetics : EJHG|April 15, 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaJudy Savige, Helen Storey, Elizabeth Watson, et al.
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