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 TitleAuthors / EditorsDate
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Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry Nguyen, Yann; Stirnemann, Jérôme; Lautredoux, Florent; Cador, Bérengère; ... Belmatoug, Nadia 2020
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A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease De Roux Serratrice, Christine; Stirnemann, Jérôme; Berrahal, Amina; Belmatoug, Nadia; ... Berger, Marc G 2020
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Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory Passemard, Sandrine; Verloes, Alain; Billette de Villemeur, Thierry; Boespflug-Tanguy, Odile; ... Schaer, Marie 2016
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; ... Blau, Nenad 2013
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PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel 2012