Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

by Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou
Published 2021-04-01

Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases

by Guilaine Boursier, Cécile Rittore, Sophie Georgin-Lavialle, Alexandre Belot, Caroline Galeotti, Eric Hachulla, Véronique Hentgen, Linda Rossi-Semerano, Guillaume Sarrabay, and Isabelle Touitou
Published 2019-10-01

Relevance of Aβ42/40 Ratio for Detection of Alzheimer Disease Pathology in Clinical Routine: The PLMR Scale

by Sylvain Lehmann, Sylvain Lehmann, Constance Delaby, Constance Delaby, Guilaine Boursier, Cindy Catteau, Nelly Ginestet, Laurent Tiers, Aleksandra Maceski, Sophie Navucet, Claire Paquet, Julien Dumurgier, Eugeen Vanmechelen, Hugo Vanderstichele, Audrey Gabelle, Audrey Gabelle, Audrey Gabelle
Published 2018-05-01

Anatomical and functional abnormalities on MRI in kabuki syndrome

by Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David Grévent, David Geneviève, Nathalie Boddaert
Published 2019-01-01