Suchergebnisse - Ariane Lunati-Rozie

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics von Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, Eric Pasmant

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Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient von Elena Faedo, Elena Faedo, Mary Marcela Araujo Chumacero, Sara Missaglia, Sara Missaglia, Ariane Lunati-Rozie, Gianmarco Severa, Gianmarco Severa, Marion Onnée, Bornale Das, Eleonora Martegani, Eleonora Martegani, Noemie Lafage, Lina El Bejjani, Ines Barka, Stéphanie Gobin-Limballe, Bouchra Badaoui, Jean-Pascal Lefaucheur, Jean-Pascal Lefaucheur, Daniela Tavian, Daniela Tavian, Edoardo Malfatti, Edoardo Malfatti

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