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Functional Neurology|July 6, 2017
HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian familyL Mosca, V Mantero, S Penco, et al.American Journal of Medical Genetics. Part A|July 17, 2008
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndromeP Callier, L Faivre, C Thauvin-Robinet, et al.European Journal of Medical Genetics|August 28, 2007
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)P Callier, L Faivre, N Marle, et al.Circulation|January 11, 2000
Trends and disparities in coronary heart disease, stroke, and other cardiovascular diseases in the United States: findings of the national conference on cardiovascular disease preventionR Cooper, J Cutler, P Desvigne-Nickens, et al.American Journal of Medical Genetics. Part A|February 13, 2009
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplicationA L Mosca, P Callier, L Faivre, et al.ESMO Gastrointestinal Oncology|February 6, 2026
Germline genomic profiling of patients with early-onset colorectal cancerG Mauri, M Puzzono, A Mannucci, et al.Diabetes & Metabolism|November 27, 2018
Type A competitiveness traits correlate with downregulation of c-Fos expression in patients with type 1 diabetesJ-C Chauvet-Gélinier, A-L Mosca-Boidron, C Lemogne, et al.JIMD Reports|January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.Science Translational Medicine|April 2, 2025
Mavoglurant reduces cocaine use in patients with cocaine use disorder in a phase 2 clinical trialBaltazar Gomez-Mancilla, Kenneth M Dürsteler, Marc Vogel, et al.Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.Pageof 14