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Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and revie... by Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard
Published 2021-12-01
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TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning by Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay
Published 2024-12-01
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