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Human Mutation|January 1, 1995
French CF family genotype analysis shows that the R297Q mutation is a rare polymorphismI Dorval, P Jézéquel, B Chauvel, et al.Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.Annales De Biologie Clinique|January 1, 1988
[Biological markers in hepatocellular carcinoma]Y Deugnier, V David, G Leray, et al.Clinical Genetics|January 11, 2016
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencingC Mouden, C Dubourg, W Carré, et al.Clinical Genetics|November 21, 2013
Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformationsF Riant, S Odent, M Cecillon, et al.European Journal of Medical Genetics|March 22, 2023
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samplesL Mary, M Fradin, L Pasquier, et al.Journal De Genetique Humaine|January 1, 1989
[Argininosuccinic aciduria. A new case revealed by psychiatric disorders]S Odent, M Roussey, H Journel, et al.Prenatal Diagnosis|October 12, 2010
Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesisL Damaj, B Bruneau, M Ferry, et al.Annales De La Nutrition Et De L'Alimentation|January 1, 1979
[Relation between ceruloplasmin and vitamin A in Sprague-Dawley rats]L Cloarec, M R Durou, B Legras, et al.Pageof 44