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Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations by Jonathan Hall, Marta Corton, Fabian Norbert Fries, Jessica Obst, Clara Grünauer-Kloevekorn, Berthold Seitz, Maria della Volpe Waizel, Eszter Jávorszky, Kálmán Tory, Erika Maka, Maryam Amini, Shweta Suiwal, Tanja Stachon, Nóra Szentmáry
Published 2025-03-01Get full text
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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions by Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C. Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M. van Eerde, Joost P. Schanstra, Stéphane Decramer, Gema Ariceta, MD, PhD, Elisa Benetti, MD, PhD, Marcus R. Benz, MD, Anna Bjerre, MD, PhD, Bernard R. Boudailliez, MD, Antonia Bouts, MD, PhD, Jens Drube, Ann Christin Gjerstad, MD, PhD, Augustina Jankauskiene, MD, PhD, Eszter Jávorszky, PhD, Nadine Jay, MD, Martin Kirschstein, MD, PhD, Nataša Marčun Varda, MD, PhD, Olivier Niel, MD, PhD, François Nobili, MD, Christine Pietrement, MD, PhD, Dovile Ruzgiene, MD, Raphael Schild, MD, Hagen Staude, MD, Kálmán Tory, MD, PhD, Michel Tsimaratos, MD, PhD, Ulrike Walden, MD, Hildegard Zappel, MD
Published 2024-08-01Get full text
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