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Cold Spring Harbor Symposia on Quantitative Biology|December 6, 2012
Mechanisms of nuclear suppression of host immunity by effectors from the Arabidopsis downy mildew pathogen Hyaloperonospora arabidopsidis (Hpa)M-C Caillaud, L Wirthmueller, G Fabro, et al.Journal of Perinatology : Official Journal of the California Perinatal Association|January 30, 2009
Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's diseaseH Ben Turkia, N Tebib, H Azzouz, et al.La Revue De Medecine Interne|April 4, 2018
[Type 3 Gaucher disease, also an adult disease?]A Leurs, A Chepy, C Detonellaere, et al.Human Molecular Genetics|September 16, 1998
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulationM P Nicolino, J P Puech, E J Kremer, et al.Archives Francaises De Pediatrie|October 1, 1992
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]F Rey, V Abadie, S Lyonnet, et al.Genomics|November 1, 1989
CpG dinucleotides are mutation hot spots in phenylketonuriaV Abadie, S Lyonnet, N Maurin, et al.The Journal of Biological Chemistry|May 25, 1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuriaC Caillaud, S Lyonnet, F Rey, et al.International Journal of Clinical Practice|August 31, 2006
Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome SurveyO Lidove, U Ramaswami, R Jaussaud, et al.Human Genetics|February 1, 1991
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locusM Berthelon, C Caillaud, F Rey, et al.American Journal of Human Genetics|December 1, 1988
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in FranceF Rey, M Berthelon, C Caillaud, et al.Pageof 14