Search Results - Sandra Habbig
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Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene by Christian Betz, Björn Reusch, Thomas Langmann, Sandra Habbig, Bodo B. Beck, Hanno J. Bolz
Published in HGG Advances (2025-07-01)Get full text
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Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1 by Cristina Martin-Higueras, Lodovica Borghese, Armando Torres, Fátima Fraga-Bilbao, Raquel Santana-Estupiñán, Constantinos J. Stefanidis, Kálmán Tory, Adam Walli, Leire Gondra, Caroline Kempf, Michaela Gessner, Sandra Habbig, Lisa Eifler, Claus P. Schmitt, Benjamin Rüdel, Malte P. Bartram, Bodo B. Beck, Bernd Hoppe
Published in Kidney International Reports (2024-01-01)Get full text
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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
Published in PLoS ONE (2017-01-01)Get 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 in Kidney International Reports (2024-08-01)Get full text
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Real-world use of complement inhibitors for haemolytic uraemic syndrome: an analysis of the European Rare Kidney Disease Registry cohortResearch in context by Aleksandra Vujović, Anne-Laure Sellier-Leclerc, Maria Cristina Mancuso, Olivia Boyer, Atif Awan, Antonio Gargiulo, Sebastian Loos, Marc Fila, Augustina Jankauskiene, Gema Ariceta, Nele Kanzelmeyer, Enrico Vidal, Maria Van Dyck, Tanja Kersnik Levart, Naděžda Šimánková, Stephane Decramer, Jonas Hofstetter, Marina Vivarelli, Savino Sciascia, Nicole C.A.J. van de Kar, Franz Schaefer, Nicole C.A.J. van de Kar, Marina Vivarelli, Savino Sciascia, David Kavanagh, René Andersen, Mia Faerch, Soren Rittig, Miquel Blasco, Pedro Arango Sancho, Alvaro Madrid, Gema Ariceta, Loreto Gesualdo, Camillo Carrara, Piero Ruggenenti, Kai-Uwe Eckardt, Jan Halbritter, Dominik Müller, Adrian Schreiber, Evelyn Seelow, Yahsou Delmas, Jerome Harambat, Brigitte Llanas, Nathalie Godefroid, Eric Goffin, Johann Morelle, Adrian Catalin Lungu, George Reusz, Péter Sallay, Attila Szabo, Kalman Tory, Jan Ulrich Becker, Kathrin Burgmaier, Volker Burst, Sandra Habbig, Max Liebau, Roman-Ulrich Mueller, Lutz Weber, Mette Damholt, Anne-Lise Kamper, Karl Emil Nelveg-Kristensen, Hanne Nørgaard, Ida Maria Schmidt, Soeren Soerensen, Wladimir Szpirt, Agnieszka Jaskólska, Monika Miklaszewska, Anna Moczulska, Elżbieta Szczęsny-Choruz, Katarzyna Zachwieja, Peter Conlon, Atif Awan, Michael Wiesener, Anja Büscher, Rainer Büscher, Lars Pape, Francesca Becherucci, Paola Romagnani, Ann Raes, Thomas Renson, Evelien Snauwaert, Johan Vande Walle, Jill Vanmassenhove, Mark Eijgelsheim, Casper Franssen, Coen Stegeman, Florian Grahammer, Thomas Henne, Tobias Huber, Christian Krebs, Sebastian Loos, Anne Mühlig, Jun Oh, Ulf Panzer, Raphael Schild, Jessica Kaufeld, Stefanie Haeberle, Franz Schaefer, Tanja Wlodkowski, Juuso Tainio, Elisa Ylinen, Obbo Bredewold, Wieneke Michels, Dorien Peters, Antonius Rabelink, Arghya Ray, Joris Rotmans, Siebe Spijker, Y.K. Onno Teng, Kathleen Claes, Noel Knops, Tanja Kersnik Levart, Anamarija Meglič, Gregor Novljan, Agnieszka Gach, Monika Pawlak-Bratkowska, Małgorzata Stańczyk, Marcin Tkaczyk, Pierre Cochat, Anne-Laure Sellier-Leclerc, Teresa Cavero, Eduardo Guiterrez, Joaquin Martinez, Enrique Morales, Hernando Trujillo, Gianluigi Ardissino, Valentina Capone, Sara Testa, Denis Morin, Martin Konrad, Ilaria Luongo, Gabriele Malgieri, Luigi Annicchiarico Petruzzelli, Wilbert van der Meijden, Jack Wetzels, Mattia Parolin, Enrico Vidal, Thérésa Kwon, Olivia Boyer, Aude Servais, Laurent Mesnard, Alena Parikova, Silvie Rajnochova-Bloudickova, Janka Slatinska, Ondrej Viklicky, Martin Bezdicka, Nadezda Simankova, Dana Thomasova, Jakub Zieg, Francesco Emma, Rocco Baccaro, Giuseppe Grandaliano, Alessandro Naticchia, Francesco Pesce, Margherita Baldassarri, Andrea Guarnieri, Anna Maria Pinto, Alessandra Renieri, Stephane Decramer, Stanislas Faguer, David Ribes, Thomas Simon, Stephanie Tellier, Daniel Gale, Christoph Licht, Michal Malina, Candice Roufosse, Neil Sheerin, Susana Carvajal Arjona, Renée de Wildt, Uwe Korst, Christiane Mockenhaupt, Francisco Monfort, Mireya Vicenta Rios Carratala
Published in EClinicalMedicine (2025-04-01)Get full text
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