Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry by Agnes Trautmann, Beata S. Lipska-Ziętkiewicz, Franz Schaefer

Get full text

Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome by Ada Gawrychowska, Ewa Iżycka-Świeszewska, Beata S. Lipska-Ziętkiewicz, Dominika Kuleszo, Joanna Bautembach-Minkowska, Marcin Łosin, Joanna Stefanowicz

Get full text

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism by Malgorzata A. Krawczyk, Malgorzata Styczewska, Dorota Birkholz-Walerzak, Mariola Iliszko, Beata S. Lipska-Zietkiewicz, Wojciech Kosiak, Ninela Irga-Jaworska, Ewa Izycka-Swieszewska, Ewa Bien

Get full text

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review by Stefania Drovandi, Francesca Lugani, Olivia Boyer, Edoardo La Porta, Paolo Giordano, Aurélie Hummel, Bertrand Knebelmann, Joséphine Cornet, Genevieve Baujat, Beata S. Lipska-Ziętkiewicz, Gian Marco Ghiggeri, Gianluca Caridi, Andrea Angeletti

Get full text

Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency by Anna Hogendorf, Maciej Zieliński, Maria Constantinou, Robert Śmigiel, Jolanta Wierzba, Krystyna Wyka, Anna Wędrychowicz, Anna Jakubiuk-Tomaszuk, Edyta Budzynska, Malgorzata Piotrowicz, Beata S. Lipska-Ziętkiewicz, Ewa Kaczorowska, Agata Cieślikowska, Anna Kutkowska-Kaźmierczak, Jolanta Fijak-Moskal, Monika Kugaudo, Małgorzata Kosińska-Urbańska, Agnieszka Szadkowska, Maciej Borowiec, Maciej Niedźwiecki, Piotr Trzonkowski, Wojciech Młynarski

Get full text

Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype by Magdalena Koczkowska, Marcin Jąkalski, Dorota Birkholz-Walerzak, Anna Kostecka, Mariola Iliszko, Magdalena Wójcik, Krzysztof Lewandowski, Katarzyna Milska-Musa, Patrick G. Buckley, Kinga Drężek, Ulana Juhas, Ewa Kuziemska, Agnieszka Maciejewska, Ryszard Pawłowski, Bartosz Wasąg, Natalia Filipowicz, Katarzyna Chojnowska, Urszula Ławrynowicz, Jan P. Dumanski, Beata S. Lipska-Ziętkiewicz, Jakub Mieczkowski, Arkadiusz Piotrowski

Get full text

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. by Beata S Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A Kari, Mohamed A Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer, PodoNet Consortium

Get full text