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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.Nature Genetics|August 1, 1993
A duplication in the L1CAM gene associated with X-linked hydrocephalusG Van Camp, L Vits, P Coucke, 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.European Journal of Pediatrics|September 1, 2000
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural developmentV Abadie, S Wiener-Vacher, M P Morisseau-Durand, et al.Nature Genetics|April 1, 1996
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)P Edery, T Attié, J Amiel, et al.Clinical Genetics|July 3, 1998
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndromeG Viot-Szoboszlai, J Amiel, F Doz, 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.American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.Pageof 38