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Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type by Katharina Lemberg, Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour, Daanya Salmanullah, Caroline M. Kolvenbach, Ken Saida, Seyoung Yu, Selina Hölzel, Andrew Steinsapir, Kevin A. Goncalves, Camille Nicolas Frank, Gijs A. C. Franken, Shirlee Shril, Florian Buerger, Friedhelm Hildebrandt
Published 2024-07-01Get full text
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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions by Konstantin Deutsch, Verena Klämbt, Thomas M. Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Florian Buerger, Steve Seltzsam, Sherif El Desoky, Jameela A. Kari, Farkhanda Hafeez, Maria Szczepańska, Loai A. Eid, Hazem S. Awad, Muna Al-Saffar, Neveen A. Soliman, Velibor Tasic, Camille Nicolas-Frank, Kirollos Yousef, Luca M. Schierbaum, Sophia Schneider, Abdul Halawi, Izzeldin Elmubarak, Katharina Lemberg, Shirlee Shril, Shrikant M. Mane, Nancy Rodig, Friedhelm Hildebrandt
Published 2024-09-01Get full text
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