| | Title | Authors / Editors | Date |
|
unige:145457 |
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 |
|
unige:145459 |
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 |
|
unige:82906 |
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 |
|
unige:35270 |
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 |
|
unige:32814 |
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population |
Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel |
2012 |
Billette de Villemeur, Thierry
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