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The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome by Eva Pauline Macheroux, Matthias C. Braunisch, Matthias C. Braunisch, Stephanie Pucci Pegler, Robin Satanovskij, Robin Satanovskij, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Roman Günthner, Roman Günthner, Oliver Gross, Mato Nagel, Lutz Renders, Julia Hoefele
Published 2019Connect to this object online.
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2
Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis by Matthias C. Braunisch, Matthias C. Braunisch, Maike Büttner-Herold, Roman Günthner, Roman Günthner, Robin Satanovskij, Robin Satanovskij, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Pierre-Maurice Herr, Hanns-Georg Klein, Dagmar Wahl, Claudius Küchle, Lutz Renders, Uwe Heemann, Christoph Schmaderer, Julia Hoefele
Published 2018Connect to this object online.
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3
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases by Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts
Published 2022Connect to this object online.
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