Connecting the dots: Xanthoma, haemolytic anaemia, stomatocytosis and macrothrombocytopenia point to phytosterolaemia by Jean‐Baptiste Rieu, Thibaut Jamme, Léonardo Astudillo, Lamisse Mansour‐Hendili, Thierry Levade, Pierre Cougoul

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Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices by Véronique Picard, Véronique Picard, Corinne Guitton, Lamisse Mansour-Hendili, Bernard Jondeau, Laurence Bendélac, Maha Denguir, Julien Demagny, Valérie Proulle, Frédéric Galactéros, Loic Garçon, Loic Garçon

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Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb by Lamisse Mansour-Hendili, Lamisse Mansour-Hendili, Cyril Gitiaux, Cyril Gitiaux, Madeleine Harion, Madeleine Harion, Madeleine Harion, Céline Latouche, Bénédicte Heron, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Thomas Smol, Anne Sophie Jourdain, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Manuel Schiff, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Jamal Ghoumid, Frédéric Gottrand, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Agnès Rötig, Benoît Funalot, Benoît Funalot, Isabelle Desguerre, Isabelle Desguerre

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Exome sequencing for diagnosis of congenital hemolytic anemia by Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros

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