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Human Molecular Genetics|January 1, 1993
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuriaV Abadie, J Jaruzelska, S Lyonnet, et al.Blood|February 27, 2001
Differentiation of Langerhans cells in Langerhans cell histiocytosisF Geissmann, Y Lepelletier, S Fraitag, et al.American Journal of Human Genetics|June 1, 1991
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuriaP Labrune, D Melle, F Rey, et al.Neuropediatrics|December 19, 2003
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome)L Sztriha, Y Espinosa-Parrilla, A Gururaj, et al.American Journal of Medical Genetics|March 1, 1994
Three new cases of the Schinzel-Giedion syndrome and review of the literatureP Labrune, S Lyonnet, V Zupan, et al.The Journal of Clinical Endocrinology and Metabolism|July 1, 1996
C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's diseaseP Caron, T Attié, D David, et al.Journal of Medical Genetics|March 1, 1993
Genetic background of clinical homogeneity of phenylketonuria in PolandJ Jaruzelska, R Matuszak, S Lyonnet, et al.Neuroimage|December 29, 2005
Parieto-occipital grey matter abnormalities in children with Williams syndromeN Boddaert, F Mochel, I Meresse, et al.The Journal of Biological Chemistry|March 30, 2001
Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separationF Spirito, S Chavanas, C Prost-Squarcioni, et al.Annales De Dermatologie Et De Venereologie|April 18, 2020
[Off-label drugs in childhood psoriasis]E Mahé, F Corgibet, F Maccari, et al.Pageof 38