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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review by Didier Bessis, Dominique Vidaud, Pierre Meyer, Laurence Pacot, de La Villeon G, Adeline Alice Bonnard, Yline Capri, Christine Coubes, Fanchon Herman, Didier Lacombe, Nicolas Molinari, Laura Poujade, Agathe Roubertie, Julien Van Gils, Alain Verloes, David Geneviève, Hélène Cavé, Marjolaine Willems
Published 2025-04-01Get full text
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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. by Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
Published 2016-03-01Get full text
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